#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
EML5	161436	broad.mit.edu	37	14	89154654	89154654	+	Silent	SNP	C	C	T	rs118043831	byFrequency	TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr14:89154654C>T	ENST00000380664.5	-	18	2702	c.2703G>A	c.(2701-2703)gcG>gcA	p.A901A	EML5_ENST00000554922.1_Silent_p.A901A|EML5_ENST00000352093.5_Silent_p.A863A			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	901						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GCCCATCATGCGCTTTCACTG	0.388													C|||	10	0.00199681	0.0	0.0058	5008	,	,		19499	0.0		0.004	False		,,,				2504	0.002					ENST00000554922.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(2701-2703)gcG>gcA		echinoderm microtubule associated protein like 5		C		1,3885		0,1,1942	294.0	285.0	288.0		2703	-0.1	1.0	14	dbSNP_132	288	13,8281		0,13,4134	no	coding-synonymous	EML5	NM_183387.2		0,14,6076	TT,TC,CC		0.1567,0.0257,0.1149		901/1978	89154654	14,12166	1943	4147	6090	SO:0001819	synonymous_variant	161436					cytoplasm|microtubule		g.chr14:89154654C>T	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.2703G>A	14.37:g.89154654C>T						EML5_ENST00000352093.5_Silent_p.A863A|EML5_ENST00000380664.5_Silent_p.A901A	p.A901A	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN			18	2951	-			901					B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Silent	SNP	ENST00000380664.5	37	c.2703G>A	CCDS45148.1																																																																																				0.388	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			4	214	0	0	0	1	0	4	214				
EARS2	124454	broad.mit.edu	37	16	23544062	23544062	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr16:23544062G>A	ENST00000563459.1	-	5	989	c.983C>T	c.(982-984)cCg>cTg	p.P328L	EARS2_ENST00000563232.1_Missense_Mutation_p.P328L|EARS2_ENST00000564501.1_Missense_Mutation_p.P328L|EARS2_ENST00000449606.1_Missense_Mutation_p.P328L|EARS2_ENST00000564987.1_5'UTR			Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	328					gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|tRNA aminoacylation for mitochondrial protein translation (GO:0070127)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|glutamate-tRNA(Gln) ligase activity (GO:0050561)|tRNA binding (GO:0000049)			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)		GATCAGCTCCGGCAGGGTCCT	0.532																																						ENST00000449606.1																			0				central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(982-984)cCg>cTg		glutamyl-tRNA synthetase 2, mitochondrial	L-Glutamic Acid(DB00142)						56.0	58.0	57.0					16																	23544062		1940	4142	6082	SO:0001583	missense	124454				glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding	g.chr16:23544062G>A	AB075850	CCDS42132.1	16p12.2	2014-05-06	2012-10-26		ENSG00000103356	ENSG00000103356	6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"""	29419	protein-coding gene	gene with protein product	"""glutamate tRNA ligase 2, mitochondrial"""	612799	"""glutamyl-tRNA synthetase 2, mitochondrial (putative)"""			15779907, 19805282, 22492562	Standard	NM_001083614		Approved	KIAA1970, MSE1	uc002dlt.4	Q5JPH6	OTTHUMG00000177018	ENST00000563459.1:c.983C>T	16.37:g.23544062G>A	ENSP00000456467:p.Pro328Leu					EARS2_ENST00000563459.1_Missense_Mutation_p.P328L|EARS2_ENST00000564987.1_5'UTR|EARS2_ENST00000563232.1_Missense_Mutation_p.P328L|EARS2_ENST00000564501.1_Missense_Mutation_p.P328L	p.P328L	NM_001083614.1	NP_001077083.1	Q5JPH6	SYEM_HUMAN		GBM - Glioblastoma multiforme(48;0.0353)	5	1014	-			328					B3KTT2|D3DWF1|Q86YH3|Q8TF31	Missense_Mutation	SNP	ENST00000563459.1	37	c.983C>T	CCDS42132.1	.	.	.	.	.	.	.	.	.	.	G	10.34	1.322381	0.23994	.	.	ENSG00000103356	ENST00000449606;ENST00000341597	T	0.20881	2.04	5.65	4.69	0.59074	Glutamyl/glutaminyl-tRNA synthetase, class Ib, alpha-bundle domain (1);Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain (1);	0.376195	0.31145	N	0.008177	T	0.13927	0.0337	L	0.37800	1.135	0.47698	D	0.999492	P;P	0.44816	0.844;0.577	B;B	0.35114	0.196;0.146	T	0.03344	-1.1046	10	0.66056	D	0.02	-1.1089	7.3706	0.26800	0.0817:0.0:0.6572:0.261	.	328;328	Q86YH3;Q5JPH6	.;SYEM_HUMAN	L	328	ENSP00000395196:P328L	ENSP00000343488:P328L	P	-	2	0	EARS2	23451563	1.000000	0.71417	0.914000	0.36105	0.107000	0.19398	5.343000	0.65976	1.384000	0.46424	0.655000	0.94253	CCG		0.532	EARS2-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434844.1	NM_133451		8	31	0	0	0	1	0	8	31				
C11orf30	56946	broad.mit.edu	37	11	76237544	76237544	+	Silent	SNP	G	G	A			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr11:76237544G>A	ENST00000529032.1	+	12	1860	c.1860G>A	c.(1858-1860)aaG>aaA	p.K620K	C11orf30_ENST00000343878.3_Silent_p.K620K|C11orf30_ENST00000533248.1_Silent_p.K634K|C11orf30_ENST00000524767.1_Silent_p.K635K|C11orf30_ENST00000334736.3_Silent_p.K620K|C11orf30_ENST00000524490.1_Silent_p.K536K|C11orf30_ENST00000525038.1_Silent_p.K635K|C11orf30_ENST00000525919.1_Silent_p.K621K			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	620	Thr-rich.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						CAGGAGCAAAGCCAGCTATCC	0.378																																						ENST00000529032.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						c.(1858-1860)aaG>aaA		chromosome 11 open reading frame 30							118.0	103.0	108.0					11																	76237544		2200	4292	6492	SO:0001819	synonymous_variant	56946				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr11:76237544G>A	AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.1860G>A	11.37:g.76237544G>A						C11orf30_ENST00000524490.1_Silent_p.K536K|C11orf30_ENST00000533248.1_Silent_p.K634K|C11orf30_ENST00000525038.1_Silent_p.K635K|C11orf30_ENST00000524767.1_Silent_p.K635K|C11orf30_ENST00000525919.1_Silent_p.K621K|C11orf30_ENST00000334736.3_Silent_p.K620K|C11orf30_ENST00000343878.3_Silent_p.K620K	p.K620K			Q7Z589	EMSY_HUMAN			12	1860	+			620			Thr-rich.		B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Silent	SNP	ENST00000529032.1	37	c.1860G>A	CCDS8244.1																																																																																				0.378	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193		5	51	0	0	0	1	0	5	51				
THSD4	79875	broad.mit.edu	37	15	72039275	72039275	+	Missense_Mutation	SNP	T	T	C			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr15:72039275T>C	ENST00000355327.3	+	13	2269	c.2135T>C	c.(2134-2136)cTg>cCg	p.L712P	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Missense_Mutation_p.L712P|THSD4_ENST00000357769.4_Missense_Mutation_p.L352P			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	712	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AACCGCAGCCTGACGGTGCAG	0.642																																						ENST00000355327.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(2134-2136)cTg>cCg		thrombospondin, type I, domain containing 4							35.0	43.0	40.0					15																	72039275		2159	4277	6436	SO:0001583	missense	79875					proteinaceous extracellular matrix	metalloendopeptidase activity	g.chr15:72039275T>C	AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.2135T>C	15.37:g.72039275T>C	ENSP00000347484:p.Leu712Pro					THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Missense_Mutation_p.L712P|THSD4_ENST00000357769.4_Missense_Mutation_p.L352P	p.L712P			Q6ZMP0	THSD4_HUMAN			13	2269	+			712			TSP type-1 2.		B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Missense_Mutation	SNP	ENST00000355327.3	37	c.2135T>C	CCDS10238.2	.	.	.	.	.	.	.	.	.	.	T	17.51	3.408061	0.62399	.	.	ENSG00000187720	ENST00000355327;ENST00000261862;ENST00000357769	T;T;T	0.62364	0.03;0.03;0.32	5.08	5.08	0.68730	.	.	.	.	.	T	0.68915	0.3053	L	0.38175	1.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.993;0.997	T	0.66516	-0.5904	9	0.30854	T	0.27	.	12.7805	0.57474	0.0:0.0:0.0:1.0	.	352;712	B4DR13;Q6ZMP0	.;THSD4_HUMAN	P	712;712;352	ENSP00000347484:L712P;ENSP00000261862:L712P;ENSP00000350413:L352P	ENSP00000261862:L712P	L	+	2	0	THSD4	69826329	1.000000	0.71417	0.994000	0.49952	0.968000	0.65278	3.921000	0.56454	1.900000	0.55004	0.528000	0.53228	CTG		0.642	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	NM_024817		7	28	0	0	0	1	0	7	28				
EIF5	1983	broad.mit.edu	37	14	103806053	103806053	+	Missense_Mutation	SNP	G	G	C			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr14:103806053G>C	ENST00000216554.3	+	10	1660	c.984G>C	c.(982-984)caG>caC	p.Q328H	EIF5_ENST00000392715.2_Missense_Mutation_p.Q328H|SNORA28_ENST00000606769.1_RNA|EIF5_ENST00000558506.1_Missense_Mutation_p.Q328H	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	328	W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			ATCAAGCTCAGCTTATCTCCA	0.433																																						ENST00000216554.3																			0				breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18						c.(982-984)caG>caC		eukaryotic translation initiation factor 5							124.0	107.0	112.0					14																	103806053		2203	4300	6503	SO:0001583	missense	1983				regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity	g.chr14:103806053G>C	U49436	CCDS9980.1	14q32.32	2006-05-11				ENSG00000100664			3299	protein-coding gene	gene with protein product		601710				8663286	Standard	NM_001969		Approved		uc001ymq.4	P55010		ENST00000216554.3:c.984G>C	14.37:g.103806053G>C	ENSP00000216554:p.Gln328His					EIF5_ENST00000558506.1_Missense_Mutation_p.Q328H|EIF5_ENST00000392715.2_Missense_Mutation_p.Q328H	p.Q328H	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	Epithelial(46;0.182)		10	1660	+		Melanoma(154;0.155)	328			W2.		Q53XB3|Q9H5N2|Q9UG48	Missense_Mutation	SNP	ENST00000216554.3	37	c.984G>C	CCDS9980.1	.	.	.	.	.	.	.	.	.	.	.	15.32	2.798656	0.50208	.	.	ENSG00000100664	ENST00000216554;ENST00000392715	D;D	0.90197	-2.63;-2.63	5.89	5.01	0.66863	eIF4-gamma/eIF5/eIF2-epsilon (3);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	D	0.84056	0.5388	N	0.21545	0.675	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.79434	-0.1805	10	0.45353	T	0.12	-4.4371	13.3414	0.60547	0.0726:0.0:0.9274:0.0	.	328	P55010	IF5_HUMAN	H	328	ENSP00000216554:Q328H;ENSP00000376477:Q328H	ENSP00000216554:Q328H	Q	+	3	2	EIF5	102875806	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.500000	0.73687	1.498000	0.48600	-0.259000	0.10710	CAG		0.433	EIF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415329.2	NM_001969		8	42	0	0	0	1	0	8	42				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																						ENST00000331425.6																			0																																																			0							g.chr7:62752443G>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752443G>C								NR_003952.1						0	992	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.438	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			3	23	0	0	0	1	0	3	23				
IGFN1	91156	broad.mit.edu	37	1	201185695	201185695	+	Missense_Mutation	SNP	G	G	A	rs367699515		TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr1:201185695G>A	ENST00000335211.4	+	16	9539	c.9409G>A	c.(9409-9411)Gtg>Atg	p.V3137M	IGFN1_ENST00000295591.8_Missense_Mutation_p.V297M	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	680						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGAGTGCTACGTGGTGGAGAG	0.667																																						ENST00000335211.4																			0				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(9409-9411)Gtg>Atg		immunoglobulin-like and fibronectin type III domain containing 1							33.0	30.0	31.0					1																	201185695		2203	4299	6502	SO:0001583	missense	91156							g.chr1:201185695G>A	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.9409G>A	1.37:g.201185695G>A	ENSP00000334714:p.Val3137Met					IGFN1_ENST00000295591.8_Missense_Mutation_p.V297M	p.V3137M	NM_001164586.1	NP_001158058.1					16	9539	+								F8WAI1|Q9NT72	Missense_Mutation	SNP	ENST00000335211.4	37	c.9409G>A	CCDS53455.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	8.574|8.574	0.880629|0.880629	0.17467|0.17467	.|.	.|.	ENSG00000163395|ENSG00000163395	ENST00000412892|ENST00000335211;ENST00000295591	.|T;T	.|0.57595	.|0.39;0.39	4.06|4.06	0.11|0.11	0.14611|0.14611	.|.	.|0.314036	.|0.29348	.|N	.|0.012403	T|T	0.43831|0.43831	0.1265|0.1265	M|M	0.66506|0.66506	2.035|2.035	0.09310|0.09310	N|N	0.999992|0.999992	.|P	.|0.41597	.|0.756	.|B	.|0.39185	.|0.293	T|T	0.38090|0.38090	-0.9677|-0.9677	5|10	.|0.56958	.|D	.|0.05	.|.	4.9265|4.9265	0.13896|0.13896	0.3249:0.2685:0.4066:0.0|0.3249:0.2685:0.4066:0.0	.|.	.|3137	.|F8WAI1	.|.	H|M	554|3137;297	.|ENSP00000334714:V3137M;ENSP00000295591:V297M	.|ENSP00000295591:V297M	R|V	+|+	2|1	0|0	IGFN1|IGFN1	199452318|199452318	0.000000|0.000000	0.05858|0.05858	0.185000|0.185000	0.23176|0.23176	0.003000|0.003000	0.03518|0.03518	-1.320000|-1.320000	0.02700|0.02700	-0.145000|-0.145000	0.11294|0.11294	-0.921000|-0.921000	0.02739|0.02739	CGT|GTG		0.667	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275		3	20	0	0	0	1	0	3	20				
MALAT1	378938	broad.mit.edu	37	11	65273824	65273824	+	lincRNA	SNP	G	G	A			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr11:65273824G>A	ENST00000534336.1	+	0	8592					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		ATATTTACACGAGAACCTAAT	0.363																																						ENST00000534336.1																			0																				33.0	34.0	34.0					11																	65273824		874	1988	2862			0							g.chr11:65273824G>A	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65273824G>A								NR_002819.2						0	8592	+									RNA	SNP	ENST00000534336.1	37																																																																																						0.363	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		4	18	0	0	0	1	0	4	18				
PAX7	5081	broad.mit.edu	37	1	18961619	18961619	+	Silent	SNP	G	G	T	rs371150760		TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr1:18961619G>T	ENST00000375375.3	+	3	934	c.336G>T	c.(334-336)ccG>ccT	p.P112P	PAX7_ENST00000400661.3_Silent_p.P112P|PAX7_ENST00000420770.2_Silent_p.P112P	NM_002584.2|NM_013945.2	NP_002575.1|NP_039236.1	P23759	PAX7_HUMAN	paired box 7	112	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.|Sufficient to mediate interaction with PAXBP1. {ECO:0000250}.				anatomical structure morphogenesis (GO:0009653)|cartilage development (GO:0051216)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic skeletal system development (GO:0048706)|muscle tissue morphogenesis (GO:0060415)|negative regulation of apoptotic process (GO:0043066)|neuron fate commitment (GO:0048663)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell fate commitment (GO:0010453)|regulation of protein binding (GO:0043393)|skeletal muscle satellite cell commitment (GO:0014813)|skeletal muscle tissue regeneration (GO:0043403)|spinal cord association neuron differentiation (GO:0021527)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		TGGCGACTCCGGATGTAGAGA	0.522			T	FOXO1A	alveolar rhabdomyosarcoma																																	ENST00000420770.2				Dom	yes		1	1p36.2-p36.12	5081	T	paired box gene 7			M	FOXO1A		alveolar rhabdomyosarcoma	PAX7/FOXO1(197)	0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31						c.(334-336)ccG>ccT		paired box 7							75.0	75.0	75.0					1																	18961619		2203	4300	6503	SO:0001819	synonymous_variant	5081				anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:18961619G>T	X96743	CCDS186.1, CCDS44074.1, CCDS44075.1	1p36.13	2011-06-20	2007-07-12		ENSG00000009709	ENSG00000009709		"""Paired boxes"", ""Homeoboxes / PRD class"""	8621	protein-coding gene	gene with protein product		167410	"""paired box gene 7"""			7981748, 8431641	Standard	NM_001135254		Approved	Hup1	uc001bay.3	P23759	OTTHUMG00000002433	ENST00000375375.3:c.336G>T	1.37:g.18961619G>T						PAX7_ENST00000400661.3_Silent_p.P112P|PAX7_ENST00000375375.3_Silent_p.P112P	p.P112P	NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)	3	419	+		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)	112			Paired.		E9PFV9|Q0VA99|Q2PJS5	Silent	SNP	ENST00000375375.3	37	c.336G>T	CCDS186.1																																																																																				0.522	PAX7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000006928.1	NM_002584		3	50	1	0	0.00024832	1	0.000266714	3	50				
AKR1A1	10327	broad.mit.edu	37	1	46032655	46032655	+	Missense_Mutation	SNP	C	C	G			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr1:46032655C>G	ENST00000372070.3	+	5	1066	c.319C>G	c.(319-321)Ctg>Gtg	p.L107V	AKR1A1_ENST00000471651.1_Missense_Mutation_p.L107V|AKR1A1_ENST00000351829.4_Missense_Mutation_p.L107V	NM_001202413.1|NM_001202414.1|NM_006066.3	NP_001189342.1|NP_001189343.1|NP_006057.1	P14550	AK1A1_HUMAN	aldo-keto reductase family 1, member A1 (aldehyde reductase)	107					aldehyde catabolic process (GO:0046185)|cellular aldehyde metabolic process (GO:0006081)|D-glucuronate catabolic process (GO:0042840)|glucose metabolic process (GO:0006006)|L-ascorbic acid biosynthetic process (GO:0019853)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|electron carrier activity (GO:0009055)|L-glucuronate reductase activity (GO:0047939)			lung(3)|prostate(1)|urinary_tract(1)	5	Acute lymphoblastic leukemia(166;0.155)				Doxorubicin(DB00997)	GCTGGAGTATCTGGACCTGTA	0.562																																						ENST00000372070.3																			0				lung(3)|prostate(1)|urinary_tract(1)	5						c.(319-321)Ctg>Gtg		aldo-keto reductase family 1, member A1 (aldehyde reductase)							122.0	104.0	110.0					1																	46032655		2203	4300	6503	SO:0001583	missense	10327				glucose metabolic process		alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding	g.chr1:46032655C>G	J04794	CCDS523.1	1p33-p32	2010-04-08			ENSG00000117448	ENSG00000117448	1.1.1.2	"""Aldo-keto reductases"""	380	protein-coding gene	gene with protein product	"""dihydrodiol dehydrogenase 3"""	103830				2498333, 10393438	Standard	NM_001202414		Approved	ALR, DD3	uc001coe.3	P14550	OTTHUMG00000007740	ENST00000372070.3:c.319C>G	1.37:g.46032655C>G	ENSP00000361140:p.Leu107Val					AKR1A1_ENST00000351829.4_Missense_Mutation_p.L107V|AKR1A1_ENST00000471651.1_3'UTR	p.L107V	NM_001202413.1|NM_001202414.1|NM_006066.3	NP_001189342.1|NP_001189343.1|NP_006057.1	P14550	AK1A1_HUMAN			5	1066	+	Acute lymphoblastic leukemia(166;0.155)		107					A8KAL8|D3DQ04|Q6IAZ4	Missense_Mutation	SNP	ENST00000372070.3	37	c.319C>G	CCDS523.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.969807	0.53614	.	.	ENSG00000117448	ENST00000372070;ENST00000434299;ENST00000351829	T;T;T	0.31247	1.5;1.5;1.5	6.01	-1.54	0.08584	NADP-dependent oxidoreductase domain (3);	0.068174	0.64402	D	0.000011	T	0.18173	0.0436	N	0.11560	0.145	0.58432	D	0.999998	P	0.48640	0.913	P	0.51453	0.67	T	0.09707	-1.0662	10	0.11794	T	0.64	.	8.8364	0.35115	0.128:0.6629:0.0:0.2091	.	107	P14550	AK1A1_HUMAN	V	107	ENSP00000361140:L107V;ENSP00000398414:L107V;ENSP00000312606:L107V	ENSP00000312606:L107V	L	+	1	2	AKR1A1	45805242	1.000000	0.71417	0.994000	0.49952	0.946000	0.59487	1.334000	0.33827	-0.177000	0.10690	-0.194000	0.12790	CTG		0.562	AKR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020851.1	NM_006066		6	60	0	0	0	1	0	6	60				
NSMCE2	286053	broad.mit.edu	37	8	126163474	126163474	+	Silent	SNP	G	G	A			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr8:126163474G>A	ENST00000287437.3	+	4	435	c.219G>A	c.(217-219)cgG>cgA	p.R73R	NSMCE2_ENST00000522563.1_Silent_p.R73R|NSMCE2_ENST00000517315.1_Silent_p.R13R	NM_173685.2	NP_775956.1	Q96MF7	NSE2_HUMAN	non-SMC element 2, MMS21 homolog (S. cerevisiae)	73					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|protein sumoylation (GO:0016925)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			CATTGGATCGGCAACTAAACC	0.328																																						ENST00000287437.3																			0				breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9						c.(217-219)cgG>cgA		non-SMC element 2, MMS21 homolog (S. cerevisiae)							183.0	177.0	179.0					8																	126163474		2203	4298	6501	SO:0001819	synonymous_variant	286053				DNA recombination|DNA repair	nucleus	ligase activity|zinc ion binding	g.chr8:126163474G>A	AK057002	CCDS6356.1	8q24.13	2013-01-28	2006-12-21	2006-07-05	ENSG00000156831	ENSG00000156831		"""Zinc fingers, MIZ-type"""	26513	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 7"""		"""chromosome 8 open reading frame 36"", ""non-SMC element 2 homolog (MMS21, S. cerevisiae)"""	C8orf36		12477932	Standard	NM_173685		Approved	FLJ32440, MMS21, NSE2, ZMIZ7	uc003yrw.2	Q96MF7	OTTHUMG00000164993	ENST00000287437.3:c.219G>A	8.37:g.126163474G>A						NSMCE2_ENST00000517315.1_Silent_p.R13R|NSMCE2_ENST00000522563.1_Silent_p.R73R	p.R73R	NM_173685.2	NP_775956.1	Q96MF7	NSE2_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)		4	435	+	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		73					Q8N549	Silent	SNP	ENST00000287437.3	37	c.219G>A	CCDS6356.1																																																																																				0.328	NSMCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381378.1	NM_173685		4	219	0	0	0	1	0	4	219				
MN1	4330	broad.mit.edu	37	22	28194061	28194061	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr22:28194061C>A	ENST00000302326.4	-	1	3425	c.2471G>T	c.(2470-2472)tGc>tTc	p.C824F		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	824					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CGCAGCCAGGCAGCTCTGGCC	0.632			T	ETV6	"""AML, meningioma"""																																	ENST00000302326.4				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"""L, O"""	ETV6		"""AML, meningioma"""		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						c.(2470-2472)tGc>tTc		meningioma (disrupted in balanced translocation) 1							47.0	54.0	52.0					22																	28194061		1953	4137	6090	SO:0001583	missense	4330						binding	g.chr22:28194061C>A	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.2471G>T	22.37:g.28194061C>A	ENSP00000304956:p.Cys824Phe						p.C824F	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN			1	3425	-			824					A9Z1V9	Missense_Mutation	SNP	ENST00000302326.4	37	c.2471G>T	CCDS42998.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.450410	0.63290	.	.	ENSG00000169184	ENST00000302326	T	0.64803	-0.12	3.74	3.74	0.42951	.	0.000000	0.85682	D	0.000000	T	0.68229	0.2978	L	0.29908	0.895	0.58432	D	0.99999	D	0.76494	0.999	D	0.83275	0.996	T	0.71424	-0.4597	10	0.54805	T	0.06	-13.2679	14.2933	0.66295	0.0:1.0:0.0:0.0	.	824	Q10571	MN1_HUMAN	F	824	ENSP00000304956:C824F	ENSP00000304956:C824F	C	-	2	0	MN1	26524061	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.557000	0.73937	1.922000	0.55676	0.462000	0.41574	TGC		0.632	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		11	73	1	0	3.07112e-06	1	3.36085e-06	11	73				
LINGO4	339398	broad.mit.edu	37	1	151773576	151773576	+	Silent	SNP	C	C	T			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr1:151773576C>T	ENST00000368820.3	-	2	2542	c.1605G>A	c.(1603-1605)gtG>gtA	p.V535V	RP11-98D18.17_ENST00000601909.1_lincRNA	NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	535						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CGACTGCCAGCACCATGGCCA	0.567																																						ENST00000368820.3																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(1603-1605)gtG>gtA		leucine rich repeat and Ig domain containing 4							136.0	138.0	137.0					1																	151773576		2203	4300	6503	SO:0001819	synonymous_variant	339398					integral to membrane		g.chr1:151773576C>T		CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"""Immunoglobulin superfamily / I-set domain containing"""	31814	protein-coding gene	gene with protein product		609794	"""leucine rich repeat neuronal 6D"""	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.1605G>A	1.37:g.151773576C>T							p.V535V	NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	2542	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		535						Silent	SNP	ENST00000368820.3	37	c.1605G>A	CCDS30855.1																																																																																				0.567	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036639.1	XM_291387		20	121	0	0	0	1	0	20	121				
CWH43	80157	broad.mit.edu	37	4	49005949	49005949	+	Missense_Mutation	SNP	A	A	G			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr4:49005949A>G	ENST00000226432.4	+	7	1183	c.1000A>G	c.(1000-1002)Aca>Gca	p.T334A	CWH43_ENST00000513409.1_Missense_Mutation_p.T307A	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	334					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TGCCTGGTGCACAGCTTTTAA	0.398																																						ENST00000226432.4																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(1000-1002)Aca>Gca		cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)							62.0	59.0	60.0					4																	49005949		2203	4300	6503	SO:0001583	missense	80157				GPI anchor biosynthetic process	integral to membrane		g.chr4:49005949A>G		CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.1000A>G	4.37:g.49005949A>G	ENSP00000226432:p.Thr334Ala					CWH43_ENST00000513409.1_Missense_Mutation_p.T307A	p.T334A	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN			7	1183	+			334					B2RPD7	Missense_Mutation	SNP	ENST00000226432.4	37	c.1000A>G	CCDS3486.1	.	.	.	.	.	.	.	.	.	.	A	18.97	3.735910	0.69189	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	T;T	0.43294	1.53;0.95	4.72	4.72	0.59763	.	0.000000	0.56097	D	0.000023	T	0.54319	0.1851	M	0.67953	2.075	0.40610	D	0.981665	D	0.59767	0.986	P	0.55391	0.775	T	0.57682	-0.7769	9	.	.	.	.	13.2342	0.59961	1.0:0.0:0.0:0.0	.	334	Q9H720	PG2IP_HUMAN	A	334;307	ENSP00000226432:T334A;ENSP00000422802:T307A	.	T	+	1	0	CWH43	48700706	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	5.515000	0.67049	2.125000	0.65367	0.533000	0.62120	ACA		0.398	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	NM_025087		5	34	0	0	0	1	0	5	34				
PRPSAP2	5636	broad.mit.edu	37	17	18833976	18833976	+	Missense_Mutation	SNP	T	T	A			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr17:18833976T>A	ENST00000268835.2	+	12	1358	c.1075T>A	c.(1075-1077)Tcc>Acc	p.S359T	PRPSAP2_ENST00000419071.2_Missense_Mutation_p.S319T|PRPSAP2_ENST00000536323.1_Missense_Mutation_p.S273T|PRPSAP2_ENST00000542013.1_Missense_Mutation_p.S310T	NM_002767.3	NP_002758.1	O60256	KPRB_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 2	359					bone development (GO:0060348)|negative regulation of catalytic activity (GO:0043086)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide biosynthetic process (GO:0009165)	ribose phosphate diphosphokinase complex (GO:0002189)	enzyme inhibitor activity (GO:0004857)|magnesium ion binding (GO:0000287)|ribose phosphate diphosphokinase activity (GO:0004749)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						GGAGTCCATGTCCTACCTTTT	0.478																																						ENST00000268835.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						c.(1075-1077)Tcc>Acc		phosphoribosyl pyrophosphate synthetase-associated protein 2							98.0	91.0	93.0					17																	18833976		2203	4300	6503	SO:0001583	missense	5636				nucleotide biosynthetic process		enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity	g.chr17:18833976T>A	AB007851	CCDS11200.1, CCDS58525.1, CCDS58526.1, CCDS58527.1	17p12-p11.2	2008-05-14			ENSG00000141127	ENSG00000141127			9467	protein-coding gene	gene with protein product		603762				9806849	Standard	NM_002767		Approved	PAP41	uc002gup.2	O60256	OTTHUMG00000059406	ENST00000268835.2:c.1075T>A	17.37:g.18833976T>A	ENSP00000268835:p.Ser359Thr					PRPSAP2_ENST00000536323.1_Missense_Mutation_p.S273T|PRPSAP2_ENST00000419071.2_Missense_Mutation_p.S319T|PRPSAP2_ENST00000542013.1_Missense_Mutation_p.S310T	p.S359T	NM_002767.3	NP_002758.1	O60256	KPRB_HUMAN			12	1358	+			359					B4E1M8|B4E329|B7ZKZ1|E7EMY2|Q6IAS2	Missense_Mutation	SNP	ENST00000268835.2	37	c.1075T>A	CCDS11200.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.486564	0.84854	.	.	ENSG00000141127	ENST00000395656;ENST00000419071;ENST00000268835;ENST00000536323;ENST00000542013	T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85	4.98	4.98	0.66077	.	0.124870	0.56097	D	0.000025	D	0.82309	0.5009	M	0.81497	2.545	0.58432	D	0.999999	B;D;P;D	0.62365	0.231;0.991;0.904;0.975	B;P;P;P	0.53224	0.074;0.721;0.624;0.703	D	0.85038	0.0921	10	0.56958	D	0.05	-1.3212	14.9586	0.71138	0.0:0.0:0.0:1.0	.	310;319;146;359	B7ZKZ1;E7EMY2;Q6ZTP6;O60256	.;.;.;KPRB_HUMAN	T	359;319;359;273;310	ENSP00000392536:S319T;ENSP00000268835:S359T;ENSP00000443967:S273T;ENSP00000439129:S310T	ENSP00000268835:S359T	S	+	1	0	PRPSAP2	18774701	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.305000	0.51873	1.972000	0.57404	0.528000	0.53228	TCC		0.478	PRPSAP2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132112.3	NM_002767		10	58	0	0	0	1	0	10	58				
TBC1D3	729873	broad.mit.edu	37	17	36357265	36357265	+	5'UTR	SNP	C	C	T	rs200062385	byFrequency	TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr17:36357265C>T	ENST00000537432.1	-	0	49				RP11-1407O15.2_ENST00000312412.4_Missense_Mutation_p.A330T|RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.A175T			Q8IZP1	TBC3A_HUMAN	TBC1 domain family, member 3							plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5	Breast(7;2.97e-12)	Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATAAGCAATGCAGTCTCCCTA	0.378																																						ENST00000312412.4																			0				kidney(1)|lung(3)	4						c.(988-990)Gca>Aca																																						SO:0001623	5_prime_UTR_variant	0							g.chr17:36357265C>T		CCDS45658.1	17q12	2014-09-16			ENSG00000274611	ENSG00000274419			19031	protein-coding gene	gene with protein product	"""prostate cancer gene 17"""	607741				12604796, 12359748, 16863688	Standard	NM_001123391		Approved	TBC1D3A, DKFZp434P2235, PRC17	uc002hoo.2	Q8IZP1	OTTHUMG00000188487	ENST00000537432.1:c.-440G>A	17.37:g.36357265C>T						RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.A175T|TBC1D3_ENST00000537432.1_5'UTR	p.A330T							9	987	-								A6NGX2|A8K007|Q6DCB4|Q9H0B9|Q9UDD4	Missense_Mutation	SNP	ENST00000537432.1	37	c.988G>A	CCDS45658.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.81|11.81	1.748450|1.748450	0.30955|0.30955	.|.	.|.	ENSG00000174093|ENSG00000174093	ENST00000544906;ENST00000520237;ENST00000312412;ENST00000518004|ENST00000523089	T;T;T;T|.	0.04706|.	3.57;3.57;3.57;3.57|.	2.83|2.83	2.83|2.83	0.33086|0.33086	.|.	.|.	.|.	.|.	.|.	T|T	0.67739|0.67739	0.2925|0.2925	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.67887|0.67887	-0.5554|-0.5554	6|4	0.22706|.	T|.	0.39|.	.|.	13.7008|13.7008	0.62608|0.62608	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	T|Y	175;330;330;326|285	ENSP00000444117:A175T;ENSP00000428261:A330T;ENSP00000308540:A330T;ENSP00000428330:A326T|.	ENSP00000308540:A330T|.	A|C	-|-	1|2	0|0	RP11-1407O15.2|RP11-1407O15.2	33611060|33611060	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.480000|0.480000	0.33159|0.33159	7.593000|7.593000	0.82686|0.82686	1.579000|1.579000	0.49836|0.49836	0.194000|0.194000	0.17425|0.17425	GCA|TGC		0.378	TBC1D3-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001123391		4	49	0	0	0	1	0	4	49				
CD72	971	broad.mit.edu	37	9	35616600	35616600	+	Missense_Mutation	SNP	G	G	A	rs368007396		TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr9:35616600G>A	ENST00000396757.1	-	5	513	c.349C>T	c.(349-351)Cgc>Tgc	p.R117C	CD72_ENST00000490239.1_5'UTR|CD72_ENST00000378431.1_Missense_Mutation_p.R117C|CD72_ENST00000259633.4_Missense_Mutation_p.R117C			P21854	CD72_HUMAN	CD72 molecule	117					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor binding (GO:0005102)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TACTCACAGCGCACTCCCAGG	0.592																																						ENST00000396757.1																			0				large_intestine(5)|liver(1)|lung(6)	12						c.(349-351)Cgc>Tgc		CD72 molecule		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	106.0	77.0	87.0		349	3.7	1.0	9		87	0,8600		0,0,4300	no	missense	CD72	NM_001782.2	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	117/360	35616600	1,13005	2203	4300	6503	SO:0001583	missense	971				axon guidance|cell adhesion	integral to plasma membrane	receptor binding|sugar binding|transmembrane receptor activity	g.chr9:35616600G>A		CCDS6581.1	9p	2008-07-21	2006-03-28		ENSG00000137101	ENSG00000137101		"""CD molecules"""	1696	protein-coding gene	gene with protein product		107272	"""CD72 antigen"""			2044654, 1711157	Standard	NM_001782		Approved	LYB2, CD72b	uc003zxb.2	P21854	OTTHUMG00000019870	ENST00000396757.1:c.349C>T	9.37:g.35616600G>A	ENSP00000379980:p.Arg117Cys					CD72_ENST00000259633.4_Missense_Mutation_p.R117C|CD72_ENST00000490239.1_5'UTR|CD72_ENST00000378431.1_Missense_Mutation_p.R117C	p.R117C			P21854	CD72_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		5	513	-			117						Missense_Mutation	SNP	ENST00000396757.1	37	c.349C>T	CCDS6581.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.752664	0.69533	2.27E-4	0.0	ENSG00000137101	ENST00000396757;ENST00000396759;ENST00000259633;ENST00000378431	T;T;T	0.63417	-0.04;-0.04;-0.04	4.58	3.66	0.41972	.	0.497497	0.18797	N	0.130889	T	0.67202	0.2868	L	0.52364	1.645	0.37091	D	0.899426	D;D;D	0.89917	0.998;1.0;1.0	P;P;P	0.62885	0.809;0.908;0.908	T	0.69224	-0.5201	10	0.49607	T	0.09	.	5.9823	0.19413	0.0992:0.0:0.7104:0.1905	.	117;117;117	Q5T4Q8;Q5TLG3;P21854	.;.;CD72_HUMAN	C	117	ENSP00000379980:R117C;ENSP00000259633:R117C;ENSP00000367688:R117C	ENSP00000259633:R117C	R	-	1	0	CD72	35606600	0.939000	0.31865	0.999000	0.59377	0.925000	0.55904	1.719000	0.38011	1.017000	0.39495	0.561000	0.74099	CGC		0.592	CD72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052336.1	NM_001782		8	36	0	0	0	1	0	8	36				
YARS	8565	broad.mit.edu	37	1	33276241	33276241	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr1:33276241G>A	ENST00000373477.4	-	3	1239	c.331C>T	c.(331-333)Ccc>Tcc	p.P111S		NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	111					apoptotic process (GO:0006915)|gene expression (GO:0010467)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)|tyrosyl-tRNA aminoacylation (GO:0006437)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|interleukin-8 receptor binding (GO:0005153)|poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)|tRNA binding (GO:0000049)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	TTCTCCAAGGGCACACCAATG	0.473																																						ENST00000373477.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15						c.(331-333)Ccc>Tcc		tyrosyl-tRNA synthetase	L-Tyrosine(DB00135)						134.0	113.0	121.0					1																	33276241		2203	4300	6503	SO:0001583	missense	8565				apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity	g.chr1:33276241G>A	U89436	CCDS368.1	1p35.1	2014-09-17			ENSG00000134684	ENSG00000134684	6.1.1.1	"""Aminoacyl tRNA synthetases / Class I"""	12840	protein-coding gene	gene with protein product	"""tyrosine tRNA ligase 1, cytoplasmic"""	603623				8552597, 9162081	Standard	NM_003680		Approved	YTS, YRS, tyrRS	uc001bvy.1	P54577	OTTHUMG00000003933	ENST00000373477.4:c.331C>T	1.37:g.33276241G>A	ENSP00000362576:p.Pro111Ser						p.P111S	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN			3	1239	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	111					B3KWK4|D3DPQ4|O43276|Q53EN1	Missense_Mutation	SNP	ENST00000373477.4	37	c.331C>T	CCDS368.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.128223	0.56721	.	.	ENSG00000134684	ENST00000373477	T	0.70869	-0.52	5.55	3.65	0.41850	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.044833	0.85682	D	0.000000	T	0.65302	0.2678	M	0.64630	1.985	0.80722	D	1	P	0.36144	0.539	B	0.32864	0.154	T	0.68273	-0.5452	10	0.45353	T	0.12	-7.3976	13.1694	0.59589	0.1372:0.0:0.8628:0.0	.	111	P54577	SYYC_HUMAN	S	111	ENSP00000362576:P111S	ENSP00000362576:P111S	P	-	1	0	YARS	33048828	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.384000	0.66225	1.497000	0.48584	0.555000	0.69702	CCC		0.473	YARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011225.1	NM_003680		3	58	0	0	0	1	0	3	58				
MBL2	4153	broad.mit.edu	37	10	54531228	54531228	+	Silent	SNP	C	C	T			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr10:54531228C>T	ENST00000373968.3	-	1	232	c.168G>A	c.(166-168)aaG>aaA	p.K56K		NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	56	Collagen-like.				acute-phase response (GO:0006953)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|killing by host of symbiont cells (GO:0051873)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of viral process (GO:0048525)|opsonization (GO:0008228)|positive regulation of phagocytosis (GO:0050766)|response to oxidative stress (GO:0006979)	cell surface (GO:0009986)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium-dependent protein binding (GO:0048306)|mannose binding (GO:0005537)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						CCTTTTCTCCCTTGGTGCCAT	0.542																																						ENST00000373968.3																			0				breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(166-168)aaG>aaA		mannose-binding lectin (protein C) 2, soluble							138.0	124.0	128.0					10																	54531228		2203	4300	6503	SO:0001819	synonymous_variant	4153				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding	g.chr10:54531228C>T	AF360991	CCDS7247.1	10q11.2	2014-09-17	2011-02-02		ENSG00000165471	ENSG00000165471		"""Collectins"""	6922	protein-coding gene	gene with protein product		154545	"""mannose-binding lectin (protein C) 2, soluble (opsonic defect)"""	MBL		1675710, 1672848	Standard	NM_000242		Approved	COLEC1	uc001jjt.3	P11226	OTTHUMG00000150270	ENST00000373968.3:c.168G>A	10.37:g.54531228C>T							p.K56K	NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN			1	232	-			56			Collagen-like.		Q4VB12|Q4VB13|Q4VB14|Q5SQS3|Q86SI4|Q96KE4|Q96TF7|Q96TF8|Q96TF9	Silent	SNP	ENST00000373968.3	37	c.168G>A	CCDS7247.1																																																																																				0.542	MBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048115.1	NM_000242		3	29	0	0	0	1	0	3	29				
PIP5K1C	23396	broad.mit.edu	37	19	3643249	3643249	+	Silent	SNP	C	C	T			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr19:3643249C>T	ENST00000335312.3	-	13	1729	c.1641G>A	c.(1639-1641)ccG>ccA	p.P547P	PIP5K1C_ENST00000539785.1_Silent_p.P547P|PIP5K1C_ENST00000589578.1_Silent_p.P547P|PIP5K1C_ENST00000537021.1_Silent_p.P547P	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	547					actin cytoskeleton organization (GO:0030036)|adherens junction assembly (GO:0034333)|axon guidance (GO:0007411)|clathrin-mediated endocytosis (GO:0072583)|cytoskeletal anchoring at plasma membrane (GO:0007016)|neutrophil chemotaxis (GO:0030593)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet aggregation (GO:0070527)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		ACCTGTACCGCGGCTGCTCCG	0.652																																					Esophageal Squamous(135;99 1744 12852 27186 39851)	ENST00000335312.3																			0				large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9						c.(1639-1641)ccG>ccA		phosphatidylinositol-4-phosphate 5-kinase, type I, gamma							83.0	75.0	78.0					19																	3643249		2203	4300	6503	SO:0001819	synonymous_variant	23396				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding	g.chr19:3643249C>T	AB011161	CCDS32872.1, CCDS56074.1, CCDS74257.1	19p13.3	2012-10-02			ENSG00000186111	ENSG00000186111			8996	protein-coding gene	gene with protein product		606102				9535851	Standard	NM_001195733		Approved	PIP5Kgamma, KIAA0589, LCCS3	uc002lyj.2	O60331	OTTHUMG00000180870	ENST00000335312.3:c.1641G>A	19.37:g.3643249C>T						PIP5K1C_ENST00000539785.1_Silent_p.P547P|PIP5K1C_ENST00000537021.1_Silent_p.P547P|PIP5K1C_ENST00000589578.1_Silent_p.P547P	p.P547P	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)	13	1729	-		Hepatocellular(1079;0.137)	547					B7Z9E7|C6GIJ7|C6GIJ8|Q7LE07	Silent	SNP	ENST00000335312.3	37	c.1641G>A	CCDS32872.1																																																																																				0.652	PIP5K1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453432.2	NM_012398		6	50	0	0	0	1	0	6	50				
MLXIPL	51085	broad.mit.edu	37	7	73010746	73010746	+	Missense_Mutation	SNP	C	C	G			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr7:73010746C>G	ENST00000313375.3	-	12	1933	c.1886G>C	c.(1885-1887)cGt>cCt	p.R629P	MLXIPL_ENST00000429400.2_Missense_Mutation_p.R629P|MLXIPL_ENST00000395189.1_Missense_Mutation_p.R536P|MLXIPL_ENST00000434326.1_Missense_Mutation_p.R535P|MLXIPL_ENST00000414749.2_Missense_Mutation_p.R629P|MLXIPL_ENST00000354613.1_Missense_Mutation_p.R629P	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	629					anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGGAGAGACACGGACGCTCAG	0.652																																						ENST00000313375.3																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13						c.(1885-1887)cGt>cCt		MLX interacting protein-like							37.0	42.0	40.0					7																	73010746		2203	4300	6503	SO:0001583	missense	51085				anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr7:73010746C>G	AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950			12744	protein-coding gene	gene with protein product	"""carbohydrate response element binding protein"""	605678	"""Williams Beuren syndrome chromosome region 14"""	WBSCR14		9860302	Standard	XM_005250399		Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.1886G>C	7.37:g.73010746C>G	ENSP00000320886:p.Arg629Pro					MLXIPL_ENST00000429400.2_Missense_Mutation_p.R629P|MLXIPL_ENST00000434326.1_Missense_Mutation_p.R535P|MLXIPL_ENST00000414749.2_Missense_Mutation_p.R629P|MLXIPL_ENST00000395189.1_Missense_Mutation_p.R536P|MLXIPL_ENST00000354613.1_Missense_Mutation_p.R629P	p.R629P	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN			12	1933	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	629					C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Missense_Mutation	SNP	ENST00000313375.3	37	c.1886G>C	CCDS5553.1	.	.	.	.	.	.	.	.	.	.	C	1.725	-0.495633	0.04291	.	.	ENSG00000009950	ENST00000414749;ENST00000429400;ENST00000313375;ENST00000354613;ENST00000395189;ENST00000434326	T;T;T;T;T;T	0.21932	2.54;2.56;2.57;2.57;1.98;1.98	4.69	-0.726	0.11170	.	1.400510	0.04292	N	0.345698	T	0.13114	0.0318	N	0.22421	0.69	0.09310	N	1	B;P;P;B;B	0.37781	0.015;0.473;0.608;0.003;0.005	B;B;B;B;B	0.36418	0.009;0.112;0.224;0.001;0.007	T	0.18304	-1.0341	10	0.37606	T	0.19	2.0512	3.5985	0.08016	0.1694:0.4394:0.0:0.3912	.	536;629;629;629;629	Q9NP71-6;Q9NP71;Q9NP71-2;Q9NP71-3;Q9NP71-4	.;MLXPL_HUMAN;.;.;.	P	629;629;629;629;536;535	ENSP00000412330:R629P;ENSP00000406296:R629P;ENSP00000320886:R629P;ENSP00000346629:R629P;ENSP00000378616:R536P;ENSP00000392636:R535P	ENSP00000320886:R629P	R	-	2	0	MLXIPL	72648682	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.432000	0.06956	-0.059000	0.13154	-0.375000	0.07067	CGT		0.652	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252262.1	NM_032951		6	62	0	0	0	1	0	6	62				
PIGT	51604	broad.mit.edu	37	20	44054316	44054316	+	Silent	SNP	C	C	A			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr20:44054316C>A	ENST00000279036.6	+	12	1667	c.1587C>A	c.(1585-1587)atC>atA	p.I529I	PIGT_ENST00000341555.5_Silent_p.I335I|PIGT_ENST00000372689.5_Silent_p.I462I|PIGT_ENST00000545755.1_Silent_p.I267I|PIGT_ENST00000279035.9_Silent_p.I427I|PIGT_ENST00000535404.1_Silent_p.I374I|PIGT_ENST00000543458.2_Silent_p.I473I	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	529					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|post-translational protein modification (GO:0043687)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				ACAACGTGATCTGCCTCACGT	0.597																																						ENST00000279036.6																			0				breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22						c.(1585-1587)atC>atA		phosphatidylinositol glycan anchor biosynthesis, class T							77.0	51.0	60.0					20																	44054316		2203	4300	6503	SO:0001819	synonymous_variant	51604				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	g.chr20:44054316C>A		CCDS13353.1, CCDS54464.1, CCDS54465.1, CCDS54466.1	20q12-q13.12	2013-02-26	2006-06-28		ENSG00000124155	ENSG00000124155		"""Phosphatidylinositol glycan anchor biosynthesis"""	14938	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610272	"""phosphatidylinositol glycan, class T"""			15713669	Standard	NM_015937		Approved		uc002xoh.3	Q969N2	OTTHUMG00000032574	ENST00000279036.6:c.1587C>A	20.37:g.44054316C>A						PIGT_ENST00000545755.1_Silent_p.I267I|PIGT_ENST00000341555.5_Silent_p.I335I|PIGT_ENST00000535404.1_Silent_p.I374I|PIGT_ENST00000543458.2_Silent_p.I473I|PIGT_ENST00000279035.9_Silent_p.I427I|PIGT_ENST00000372689.5_Silent_p.I462I	p.I529I	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN			12	1667	+		Myeloproliferative disorder(115;0.0122)	529					B2RND5|B7Z3N1|B7Z7I8|E1P622|G8JLF5|Q2NL69|Q7Z3N7|Q9BQY7|Q9BQY8|Q9UJG6|Q9Y2Z5	Silent	SNP	ENST00000279036.6	37	c.1587C>A	CCDS13353.1																																																																																				0.597	PIGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079434.2	NM_015937		3	26	1	0	0.115264	1	0.115264	3	26				
TUBGCP4	27229	broad.mit.edu	37	15	43669217	43669217	+	Silent	SNP	G	G	A			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr15:43669217G>A	ENST00000260383.7	+	4	590	c.336G>A	c.(334-336)ctG>ctA	p.L112L	TUBGCP4_ENST00000399460.3_5'UTR|TUBGCP4_ENST00000564079.1_Silent_p.L112L			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	112					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		TGCAGTTCCTGGGTGATCCCC	0.378																																						ENST00000564079.1																			0				breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21						c.(334-336)ctG>ctA		tubulin, gamma complex associated protein 4							177.0	152.0	160.0					15																	43669217		1838	4095	5933	SO:0001819	synonymous_variant	27229				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton	g.chr15:43669217G>A	AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.336G>A	15.37:g.43669217G>A						TUBGCP4_ENST00000260383.7_Silent_p.L112L|TUBGCP4_ENST00000399460.3_5'UTR	p.L112L	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN		GBM - Glioblastoma multiforme(94;3.53e-07)	4	576	+		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)	112					B3KNK6|Q969X3|Q9NVF0	Silent	SNP	ENST00000260383.7	37	c.336G>A																																																																																					0.378	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000432970.1	NM_014444		8	45	0	0	0	1	0	8	45				
BRWD3	254065	broad.mit.edu	37	X	79945312	79945312	+	Silent	SNP	A	A	G			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chrX:79945312A>G	ENST00000373275.4	-	33	3978	c.3762T>C	c.(3760-3762)taT>taC	p.Y1254Y	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1254					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TAATTTTATTATAAGTATCCA	0.289																																						ENST00000373275.4																			0				breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						c.(3760-3762)taT>taC		bromodomain and WD repeat domain containing 3							103.0	82.0	89.0					X																	79945312		2201	4297	6498	SO:0001819	synonymous_variant	254065							g.chrX:79945312A>G		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.3762T>C	X.37:g.79945312A>G						BRWD3_ENST00000473691.1_5'UTR	p.Y1254Y	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN			33	3978	-			1254					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Silent	SNP	ENST00000373275.4	37	c.3762T>C	CCDS14447.1																																																																																				0.289	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		3	11	0	0	0	1	0	3	11				
PCDHA9	9752	broad.mit.edu	37	5	140229383	140229383	+	Missense_Mutation	SNP	C	C	G			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr5:140229383C>G	ENST00000532602.1	+	1	2336	c.1303C>G	c.(1303-1305)Ctg>Gtg	p.L435V	PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.L435V|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	435	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGCCTTCACTGTGGGCCAC	0.622																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59						c.(1303-1305)Ctg>Gtg									81.0	78.0	79.0					5																	140229383		2196	4269	6465	SO:0001583	missense	0							g.chr5:140229383C>G	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1303C>G	5.37:g.140229383C>G	ENSP00000436042:p.Leu435Val					PCDHA9_ENST00000532602.1_Missense_Mutation_p.L435V|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.L435V	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2027	+								O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.1303C>G	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.242501	0.22796	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.55234	0.53;0.53	3.6	2.73	0.32206	Cadherin (5);Cadherin-like (1);	0.000000	0.26812	U	0.022369	T	0.80417	0.4619	H	0.98646	4.29	0.09310	N	1	D;D	0.89917	1.0;0.998	D;D	0.83275	0.984;0.996	T	0.72141	-0.4380	10	0.87932	D	0	.	8.9307	0.35668	0.0:0.8131:0.0:0.1869	.	435;435	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	V	435	ENSP00000436042:L435V;ENSP00000367362:L435V	ENSP00000367362:L435V	L	+	1	2	PCDHA9	140209567	0.004000	0.15560	0.182000	0.23118	0.055000	0.15305	0.439000	0.21575	0.825000	0.34637	0.313000	0.20887	CTG		0.622	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		14	132	0	0	0	1	0	14	132				
SLITRK1	114798	broad.mit.edu	37	13	84454624	84454624	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr13:84454624G>T	ENST00000377084.2	-	1	1904	c.1019C>A	c.(1018-1020)cCc>cAc	p.P340H		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	340	LRRNT 2.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CCCAGGGCAGGGTAAACTGTT	0.542																																						ENST00000377084.2																			0				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80						c.(1018-1020)cCc>cAc		SLIT and NTRK-like family, member 1							73.0	71.0	72.0					13																	84454624		2203	4300	6503	SO:0001583	missense	114798					integral to membrane		g.chr13:84454624G>T	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1019C>A	13.37:g.84454624G>T	ENSP00000366288:p.Pro340His						p.P340H	NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	1904	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	340			LRRNT 2.		Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	c.1019C>A	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	G	11.45	1.642933	0.29246	.	.	ENSG00000178235	ENST00000377084	T	0.58940	0.3	5.38	4.51	0.55191	Leucine-rich repeat-containing N-terminal (1);	0.236084	0.43919	D	0.000502	T	0.48040	0.1478	L	0.27053	0.805	0.39271	D	0.964389	B	0.23128	0.08	B	0.35073	0.195	T	0.39057	-0.9632	10	0.13853	T	0.58	-5.567	14.5617	0.68144	0.0:0.1474:0.8526:0.0	.	340	Q96PX8	SLIK1_HUMAN	H	340	ENSP00000366288:P340H	ENSP00000366288:P340H	P	-	2	0	SLITRK1	83352625	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.476000	0.97823	1.211000	0.43351	0.555000	0.69702	CCC		0.542	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		8	106	1	0	0.0477658	1	0.0486038	8	106				
CELF2	10659	broad.mit.edu	37	10	11312644	11312644	+	Missense_Mutation	SNP	A	A	G			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr10:11312644A>G	ENST00000379261.4	+	7	705	c.613A>G	c.(613-615)Atc>Gtc	p.I205V	CELF2_ENST00000399850.3_Missense_Mutation_p.I181V|CELF2_ENST00000537122.1_Missense_Mutation_p.I94V|CELF2_ENST00000427450.1_Missense_Mutation_p.I181V|CELF2_ENST00000416382.2_Missense_Mutation_p.I205V|CELF2_ENST00000315874.4_Missense_Mutation_p.I181V|CELF2_ENST00000354897.3_Missense_Mutation_p.I181V|CELF2_ENST00000417956.2_Missense_Mutation_p.I181V|CELF2_ENST00000608830.1_Missense_Mutation_p.I181V|CELF2_ENST00000542579.1_Missense_Mutation_p.I212V|CELF2_ENST00000450189.1_Missense_Mutation_p.I212V|CELF2_ENST00000609692.1_Missense_Mutation_p.I181V|CELF2_ENST00000354440.2_Missense_Mutation_p.I181V	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	205	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						CTCTTCACCTATCGTGGTGAA	0.577											OREG0020007	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000379261.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						c.(613-615)Atc>Gtc		CUGBP, Elav-like family member 2							45.0	50.0	48.0					10																	11312644		2044	4211	6255	SO:0001583	missense	10659				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr10:11312644A>G	U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740		"""RNA binding motif (RRM) containing"""	2550	protein-coding gene	gene with protein product		602538	"""CUG triplet repeat, RNA-binding protein 2"", ""CUG triplet repeat, RNA binding protein 2"""	CUGBP2		7869393, 9887331	Standard	NM_006561		Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000379261.4:c.613A>G	10.37:g.11312644A>G	ENSP00000368563:p.Ile205Val		OREG0020007	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	671	CELF2_ENST00000399850.3_Missense_Mutation_p.I181V|CELF2_ENST00000416382.2_Missense_Mutation_p.I205V|CELF2_ENST00000542579.1_Missense_Mutation_p.I212V|CELF2_ENST00000315874.3_Missense_Mutation_p.I181V|CELF2_ENST00000427450.1_Missense_Mutation_p.I181V|CELF2_ENST00000537122.1_Missense_Mutation_p.I94V|CELF2_ENST00000354897.3_Missense_Mutation_p.I181V|CELF2_ENST00000417956.2_Missense_Mutation_p.I181V|CELF2_ENST00000354440.2_Missense_Mutation_p.I181V|CELF2_ENST00000450189.1_Missense_Mutation_p.I212V	p.I205V	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN			7	705	+			205			Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 2.		B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Missense_Mutation	SNP	ENST00000379261.4	37	c.613A>G	CCDS44354.1	.	.	.	.	.	.	.	.	.	.	A	15.09	2.728980	0.48833	.	.	ENSG00000048740	ENST00000379261;ENST00000416382;ENST00000450189;ENST00000542579;ENST00000399850;ENST00000417956;ENST00000315874;ENST00000354440;ENST00000354897;ENST00000427450;ENST00000537122;ENST00000538632	T;T;T;T;T;T;T;T;T;T	0.07216	3.21;3.21;3.21;3.21;3.21;3.21;3.21;3.21;3.21;3.21	5.7	5.7	0.88788	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.106629	0.64402	D	0.000006	T	0.10852	0.0265	L	0.43757	1.38	0.58432	D	0.99999	B;B;B;B;B;B	0.15930	0.002;0.002;0.003;0.002;0.003;0.015	B;B;B;B;B;B	0.16722	0.003;0.007;0.005;0.005;0.015;0.016	T	0.03315	-1.1049	10	0.72032	D	0.01	-8.1801	15.9599	0.79923	1.0:0.0:0.0:0.0	.	189;205;200;212;200;205	B4DDE7;B4DS31;B2RA86;E9PC62;O95319-3;O95319	.;.;.;.;.;CELF2_HUMAN	V	205;205;212;212;181;181;181;181;181;181;94;11	ENSP00000368563:I205V;ENSP00000406451:I205V;ENSP00000389951:I212V;ENSP00000443926:I212V;ENSP00000382743:I181V;ENSP00000404834:I181V;ENSP00000315328:I181V;ENSP00000346426:I181V;ENSP00000388530:I181V;ENSP00000438884:I94V	ENSP00000315328:I181V	I	+	1	0	CELF2	11352650	1.000000	0.71417	0.992000	0.48379	0.999000	0.98932	4.940000	0.63533	2.153000	0.67306	0.533000	0.62120	ATC		0.577	CELF2-201	KNOWN	basic|CCDS	protein_coding	protein_coding				5	54	0	0	0	1	0	5	54				
TNKS2	80351	broad.mit.edu	37	10	93590737	93590737	+	Silent	SNP	A	A	C			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr10:93590737A>C	ENST00000371627.4	+	10	1541	c.1162A>C	c.(1162-1164)Aga>Cga	p.R388R		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	388					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				ACTGTTGCTAAGAAAAGGAGC	0.294																																						ENST00000371627.4																			0				biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48						c.(1162-1164)Aga>Cga		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2							95.0	88.0	90.0					10																	93590737		2203	4299	6502	SO:0001819	synonymous_variant	80351				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr10:93590737A>C	AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.1162A>C	10.37:g.93590737A>C							p.R388R	NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN			10	1541	+		Colorectal(252;0.162)	388					B2RBD3|Q9H8F2|Q9HAS4	Silent	SNP	ENST00000371627.4	37	c.1162A>C	CCDS7417.1																																																																																				0.294	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	NM_025235		5	28	0	0	0	1	0	5	28				
OR5L1	219437	broad.mit.edu	37	11	55579364	55579364	+	Missense_Mutation	SNP	G	G	A	rs138368201		TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr11:55579364G>A	ENST00000333973.2	+	1	511	c.422G>A	c.(421-423)cGt>cAt	p.R141H		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R141H(2)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TGGAAGGTGCGTGTGGAGCTG	0.498																																						ENST00000333973.2																			2	Substitution - Missense(2)	p.R141H(2)	prostate(2)	NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78						c.(421-423)cGt>cAt		olfactory receptor, family 5, subfamily L, member 1		G	HIS/ARG	0,4400		0,0,2200	216.0	174.0	188.0		422	3.0	0.0	11	dbSNP_134	188	2,8590	2.2+/-6.3	0,2,4294	no	missense	OR5L1	NM_001004738.1	29	0,2,6494	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	141/312	55579364	2,12990	2200	4296	6496	SO:0001583	missense	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579364G>A	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.422G>A	11.37:g.55579364G>A	ENSP00000335529:p.Arg141His						p.R141H	NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN			1	511	+		all_epithelial(135;0.208)	141					B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	c.422G>A	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	g	12.12	1.842627	0.32606	0.0	2.33E-4	ENSG00000186117	ENST00000333973	T	0.37411	1.2	3.98	2.98	0.34508	GPCR, rhodopsin-like superfamily (1);	0.359275	0.24386	N	0.038975	T	0.35711	0.0941	M	0.62723	1.935	0.09310	N	1	B	0.15719	0.014	B	0.18561	0.022	T	0.41805	-0.9488	10	0.87932	D	0	-1.0929	11.6928	0.51525	0.0:0.1804:0.8196:0.0	.	141	Q8NGL2	OR5L1_HUMAN	H	141	ENSP00000335529:R141H	ENSP00000335529:R141H	R	+	2	0	OR5L1	55335940	0.235000	0.23794	0.003000	0.11579	0.015000	0.08874	2.927000	0.48900	1.770000	0.52166	0.435000	0.28638	CGT		0.498	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		9	85	0	0	0	1	0	9	85				
OR10G3	26533	broad.mit.edu	37	14	22038732	22038732	+	Silent	SNP	A	A	T			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr14:22038732A>T	ENST00000303532.1	-	1	143	c.144T>A	c.(142-144)acT>acA	p.T48T		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	48						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		CTGCCCAGACAGTGATTAAAA	0.468																																						ENST00000303532.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15						c.(142-144)acT>acA		olfactory receptor, family 10, subfamily G, member 3							75.0	74.0	74.0					14																	22038732		2203	4300	6503	SO:0001819	synonymous_variant	26533				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22038732A>T		CCDS32046.1	14q11.2	2013-09-24			ENSG00000169208	ENSG00000169208		"""GPCR / Class A : Olfactory receptors"""	8171	protein-coding gene	gene with protein product						8188290	Standard	NM_001005465		Approved		uc010tmb.2	Q8NGC4	OTTHUMG00000168886	ENST00000303532.1:c.144T>A	14.37:g.22038732A>T							p.T48T	NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN		GBM - Glioblastoma multiforme(265;0.0139)	1	143	-	all_cancers(95;0.000987)		48					Q6IET7|Q96R77	Silent	SNP	ENST00000303532.1	37	c.144T>A	CCDS32046.1																																																																																				0.468	OR10G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401521.1			3	28	0	0	0	1	0	3	28				
CHRND	1144	broad.mit.edu	37	2	233393299	233393299	+	Missense_Mutation	SNP	C	C	T	rs199984639		TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr2:233393299C>T	ENST00000258385.3	+	5	474	c.442C>T	c.(442-444)Cgc>Tgc	p.R148C	CHRND_ENST00000543200.1_Missense_Mutation_p.R133C|CHRND_ENST00000457943.2_Silent_p.S57S|CHRND_ENST00000536614.1_Missense_Mutation_p.R148C	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	148					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	TGCCATCTTCCGCTCCTCCTG	0.587																																						ENST00000258385.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34						c.(442-444)Cgc>Tgc		cholinergic receptor, nicotinic, delta (muscle)							177.0	158.0	164.0					2																	233393299		2203	4300	6503	SO:0001583	missense	1144				muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr2:233393299C>T	X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1965	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, delta (muscle)"""	100720	"""cholinergic receptor, nicotinic, delta"""	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.442C>T	2.37:g.233393299C>T	ENSP00000258385:p.Arg148Cys					CHRND_ENST00000457943.2_Silent_p.S57S|CHRND_ENST00000543200.1_Missense_Mutation_p.R133C|CHRND_ENST00000536614.1_Missense_Mutation_p.R148C	p.R148C	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	5	474	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	148					A8K661|B4DT92|Q52LH4	Missense_Mutation	SNP	ENST00000258385.3	37	c.442C>T	CCDS2494.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.162336	0.57368	.	.	ENSG00000135902	ENST00000449596;ENST00000543200;ENST00000258385;ENST00000536614	T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34	4.29	2.43	0.29744	Neurotransmitter-gated ion-channel ligand-binding (3);	0.128965	0.50627	N	0.000104	T	0.81800	0.4899	M	0.90483	3.12	0.80722	D	1	B;B	0.17852	0.024;0.009	B;B	0.17722	0.015;0.019	T	0.78727	-0.2091	10	0.72032	D	0.01	.	8.9496	0.35781	0.1476:0.7738:0.0:0.0786	.	133;148	B4DT92;Q07001	.;ACHD_HUMAN	C	133;133;148;148	ENSP00000404950:R133C;ENSP00000438380:R133C;ENSP00000258385:R148C;ENSP00000437740:R148C	ENSP00000258385:R148C	R	+	1	0	CHRND	233101543	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.917000	0.56424	0.544000	0.28883	0.561000	0.74099	CGC		0.587	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257038.2			4	125	0	0	0	1	0	4	125				
POSTN	10631	broad.mit.edu	37	13	38159066	38159066	+	Splice_Site	SNP	C	C	G			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr13:38159066C>G	ENST00000379747.4	-	8	1013		c.e8-1		POSTN_ENST00000541481.1_Splice_Site|POSTN_ENST00000379749.4_Splice_Site|POSTN_ENST00000379742.4_Splice_Site|POSTN_ENST00000379743.4_Splice_Site|POSTN_ENST00000541179.1_Splice_Site	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor						cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TTCATAAGAGCTGGAGAACAC	0.383																																						ENST00000379747.4																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59						c.e8-1		periostin, osteoblast specific factor							75.0	72.0	73.0					13																	38159066		2203	4300	6503	SO:0001630	splice_region_variant	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38159066C>G	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.896-1G>C	13.37:g.38159066C>G						POSTN_ENST00000541179.1_Splice_Site|POSTN_ENST00000379742.4_Splice_Site|POSTN_ENST00000379749.4_Splice_Site|POSTN_ENST00000541481.1_Splice_Site|POSTN_ENST00000379743.4_Splice_Site		NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	8	1013	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)						B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Splice_Site	SNP	ENST00000379747.4	37		CCDS9364.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.723727	0.68959	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481;ENST00000538347	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2193	0.93790	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	POSTN	37057066	1.000000	0.71417	0.998000	0.56505	0.727000	0.41649	7.458000	0.80787	2.524000	0.85096	0.655000	0.94253	.		0.383	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475	Intron	3	26	0	0	0	1	0	3	26				
CAMK1G	57172	broad.mit.edu	37	1	209773408	209773408	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr1:209773408C>A	ENST00000009105.1	+	3	418	c.173C>A	c.(172-174)cCt>cAt	p.P58H	CAMK1G_ENST00000361322.2_Missense_Mutation_p.P58H			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	58	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		AAGAAGTCACCTGCCTTCCGG	0.463																																					Ovarian(163;530 1939 9680 28669 48710)	ENST00000009105.1																			0				breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20						c.(172-174)cCt>cAt		calcium/calmodulin-dependent protein kinase IG							129.0	117.0	121.0					1																	209773408		2203	4300	6503	SO:0001583	missense	57172					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr1:209773408C>A		CCDS1486.1	1q32.2	2012-09-20			ENSG00000008118	ENSG00000008118			14585	protein-coding gene	gene with protein product		614994				12637513	Standard	NM_020439		Approved	VWS1, CLICKIII, dJ272L16.1	uc001hhd.3	Q96NX5	OTTHUMG00000036361	ENST00000009105.1:c.173C>A	1.37:g.209773408C>A	ENSP00000009105:p.Pro58His					CAMK1G_ENST00000361322.2_Missense_Mutation_p.P58H	p.P58H			Q96NX5	KCC1G_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0475)	3	418	+			58			Protein kinase.		Q86UH5|Q9Y3J7	Missense_Mutation	SNP	ENST00000009105.1	37	c.173C>A	CCDS1486.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.588299	0.66105	.	.	ENSG00000008118	ENST00000009105;ENST00000423146;ENST00000361322	T;T;T	0.64618	-0.11;-0.11;-0.11	5.51	5.51	0.81932	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000031	T	0.49167	0.1541	N	0.20766	0.605	0.35209	D	0.774991	B;B	0.14438	0.01;0.005	B;B	0.18263	0.021;0.021	T	0.51196	-0.8736	10	0.14656	T	0.56	.	19.4157	0.94697	0.0:1.0:0.0:0.0	.	58;58	Q96NX5-2;Q96NX5	.;KCC1G_HUMAN	H	58	ENSP00000009105:P58H;ENSP00000392173:P58H;ENSP00000354861:P58H	ENSP00000009105:P58H	P	+	2	0	CAMK1G	207840031	0.471000	0.25862	0.988000	0.46212	0.981000	0.71138	3.103000	0.50298	2.589000	0.87451	0.563000	0.77884	CCT		0.463	CAMK1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088526.1	NM_020439		8	44	1	0	0.000274275	1	0.000289236	8	44				
SPOP	8405	broad.mit.edu	37	17	47696432	47696432	+	Missense_Mutation	SNP	A	A	G			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr17:47696432A>G	ENST00000393328.2	-	6	756	c.391T>C	c.(391-393)Tgg>Cgg	p.W131R	SPOP_ENST00000503676.1_Missense_Mutation_p.W131R|SPOP_ENST00000393331.3_Missense_Mutation_p.W131R|SPOP_ENST00000504102.1_Missense_Mutation_p.W131R|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000347630.2_Missense_Mutation_p.W131R	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	131	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.W131G(2)|p.W131R(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TTGAATCCCCAGTCTTTGCCT	0.458										Prostate(2;0.17)																												ENST00000393331.3																			3	Substitution - Missense(3)	p.W131G(2)|p.W131R(1)	prostate(3)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(391-393)Tgg>Cgg		speckle-type POZ protein							121.0	124.0	123.0					17																	47696432		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696432A>G	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.391T>C	17.37:g.47696432A>G	ENSP00000377001:p.Trp131Arg	Prostate(2;0.17)				SPOP_ENST00000347630.2_Missense_Mutation_p.W131R|SPOP_ENST00000504102.1_Missense_Mutation_p.W131R|SPOP_ENST00000393328.2_Missense_Mutation_p.W131R|SPOP_ENST00000503676.1_Missense_Mutation_p.W131R	p.W131R	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	861	-			131			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.391T>C	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	19.83	3.899719	0.72754	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.76407	0.3983	L	0.47016	1.485	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.76321	-0.3002	10	0.45353	T	0.12	0.1404	15.258	0.73599	1.0:0.0:0.0:0.0	.	131	O43791	SPOP_HUMAN	R	131;131;131;131;15;131;84;131;131;131;131	ENSP00000377001:W131R;ENSP00000377004:W131R;ENSP00000240327:W131R;ENSP00000425905:W131R;ENSP00000420908:W131R;ENSP00000426986:W131R;ENSP00000420960:W131R;ENSP00000426262:W131R;ENSP00000424119:W131R	ENSP00000240327:W131R	W	-	1	0	SPOP	45051431	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.056000	0.93881	2.261000	0.74972	0.460000	0.39030	TGG		0.458	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		18	98	0	0	0	1	0	18	98				
RHOA	387	broad.mit.edu	37	3	49412958	49412958	+	Missense_Mutation	SNP	A	A	C			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr3:49412958A>C	ENST00000418115.1	-	2	449	c.65T>G	c.(64-66)cTc>cGc	p.L22R	RHOA_ENST00000422781.1_Missense_Mutation_p.L22R|RHOA_ENST00000454011.2_Missense_Mutation_p.L22R	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	22					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GAAGACTATGAGCAAGCATGT	0.473																																						ENST00000418115.1																			0				cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(64-66)cTc>cGc		ras homolog family member A	Atorvastatin(DB01076)|Simvastatin(DB00641)						147.0	133.0	138.0					3																	49412958		2203	4300	6503	SO:0001583	missense	387				axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding	g.chr3:49412958A>C	BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838	ENST00000418115.1:c.65T>G	3.37:g.49412958A>C	ENSP00000400175:p.Leu22Arg					RHOA_ENST00000454011.2_Missense_Mutation_p.L22R|RHOA_ENST00000422781.1_Missense_Mutation_p.L22R	p.L22R	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	2	449	-			22					P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	ENST00000418115.1	37	c.65T>G	CCDS2795.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.860276	0.91433	.	.	ENSG00000067560	ENST00000418115;ENST00000454011;ENST00000422781;ENST00000445425;ENST00000431929	T;T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42;-1.42	5.89	5.89	0.94794	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000001	D	0.92880	0.7735	H	0.96748	3.875	0.80722	D	1	P	0.42248	0.774	P	0.60345	0.873	D	0.94522	0.7728	10	0.87932	D	0	.	15.1943	0.73075	1.0:0.0:0.0:0.0	.	22	P61586	RHOA_HUMAN	R	22	ENSP00000400175:L22R;ENSP00000394483:L22R;ENSP00000413587:L22R;ENSP00000408402:L22R;ENSP00000400747:L22R	ENSP00000400175:L22R	L	-	2	0	RHOA	49387962	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.178000	0.94855	2.266000	0.75297	0.456000	0.33151	CTC		0.473	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3	NM_001664		17	90	0	0	0	1	0	17	90				
SOX9	6662	broad.mit.edu	37	17	70119078	70119078	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr17:70119078G>A	ENST00000245479.2	+	2	1022	c.650G>A	c.(649-651)gGc>gAc	p.G217D		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	217					astrocyte fate commitment (GO:0060018)|branching involved in ureteric bud morphogenesis (GO:0001658)|cAMP-mediated signaling (GO:0019933)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to heparin (GO:0071504)|cellular response to interleukin-1 (GO:0071347)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|chondrocyte hypertrophy (GO:0003415)|chromatin remodeling (GO:0006338)|cochlea morphogenesis (GO:0090103)|cytoskeleton organization (GO:0007010)|endocardial cushion morphogenesis (GO:0003203)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in prostatic bud elongation (GO:0060517)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|heart valve development (GO:0003170)|heart valve formation (GO:0003188)|heart valve morphogenesis (GO:0003179)|intestinal epithelial structure maintenance (GO:0060729)|intrahepatic bile duct development (GO:0035622)|limb bud formation (GO:0060174)|lung epithelial cell differentiation (GO:0060487)|male germ-line sex determination (GO:0019100)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of bone mineralization (GO:0030502)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune system process (GO:0002683)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of ossification (GO:0030279)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|notochord development (GO:0030903)|nucleosome assembly (GO:0006334)|oligodendrocyte differentiation (GO:0048709)|ossification (GO:0001503)|otic vesicle formation (GO:0030916)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of kidney development (GO:0090184)|positive regulation of male gonad development (GO:2000020)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein complex assembly (GO:0006461)|protein kinase B signaling (GO:0043491)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in lung morphogenesis (GO:0061046)|regulation of cell adhesion (GO:0030155)|regulation of cell cycle process (GO:0010564)|regulation of cell proliferation (GO:0042127)|regulation of cell proliferation involved in tissue homeostasis (GO:0060784)|regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000794)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|tissue homeostasis (GO:0001894)|transcription from RNA polymerase II promoter (GO:0006366)|ureter morphogenesis (GO:0072197)|ureter smooth muscle cell differentiation (GO:0072193)|ureter urothelium development (GO:0072190)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enhancer binding (GO:0035326)|enhancer sequence-specific DNA binding (GO:0001158)|pre-mRNA intronic binding (GO:0097157)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase activity (GO:0004672)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			TCCTCCTCCGGCATGAGCGAG	0.697																																					Pancreas(42;83 1041 2320 35205 39456)	ENST00000245479.2																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26						c.(649-651)gGc>gAc		SRY (sex determining region Y)-box 9							55.0	60.0	58.0					17																	70119078		2203	4300	6503	SO:0001583	missense	6662				cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr17:70119078G>A	S74506	CCDS11689.1	17q24.3	2013-10-17	2008-07-31		ENSG00000125398	ENSG00000125398		"""SRY (sex determining region Y)-boxes"""	11204	protein-coding gene	gene with protein product		608160	"""campomelic dysplasia, autosomal sex-reversal"""	CMD1, CMPD1		8348155	Standard	NM_000346		Approved	SRA1	uc002jiw.3	P48436	OTTHUMG00000166300	ENST00000245479.2:c.650G>A	17.37:g.70119078G>A	ENSP00000245479:p.Gly217Asp						p.G217D	NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	STAD - Stomach adenocarcinoma(260;0.119)		2	1022	+		Colorectal(1115;0.245)	217					Q53Y80	Missense_Mutation	SNP	ENST00000245479.2	37	c.650G>A	CCDS11689.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174881	0.78564	.	.	ENSG00000125398	ENST00000245479;ENST00000455872	D	0.83755	-1.76	4.61	4.61	0.57282	.	0.104673	0.64402	D	0.000003	T	0.79981	0.4540	L	0.57536	1.79	0.49582	D	0.999805	B	0.32245	0.361	B	0.21708	0.036	T	0.81972	-0.0688	10	0.87932	D	0	.	17.4407	0.87564	0.0:0.0:1.0:0.0	.	217	P48436	SOX9_HUMAN	D	217	ENSP00000245479:G217D	ENSP00000245479:G217D	G	+	2	0	SOX9	67630673	1.000000	0.71417	0.995000	0.50966	0.654000	0.38779	7.748000	0.85085	2.113000	0.64589	0.491000	0.48974	GGC		0.697	SOX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389032.1	NM_000346		4	110	0	0	0	1	0	4	110				
ENPEP	2028	broad.mit.edu	37	4	111397722	111397722	+	Missense_Mutation	SNP	C	C	T	rs199759636		TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr4:111397722C>T	ENST00000265162.5	+	1	494	c.152C>T	c.(151-153)cCg>cTg	p.P51L		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	51					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		GACGGCGGGCCGGGCACTGCG	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		14464	0.0		0.0	False		,,,				2504	0.001					ENST00000265162.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(151-153)cCg>cTg		glutamyl aminopeptidase (aminopeptidase A)	L-Glutamic Acid(DB00142)						134.0	131.0	132.0					4																	111397722		2203	4300	6503	SO:0001583	missense	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111397722C>T	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.152C>T	4.37:g.111397722C>T	ENSP00000265162:p.Pro51Leu						p.P51L	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	1	494	+		Hepatocellular(203;0.217)	51					Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	c.152C>T	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	C	9.046	0.990802	0.18966	.	.	ENSG00000138792	ENST00000265162	T	0.01304	5.03	4.8	-1.22	0.09494	.	1.690290	0.03521	N	0.221057	T	0.01353	0.0044	N	0.12182	0.205	0.09310	N	0.999999	B	0.13145	0.007	B	0.09377	0.004	T	0.50197	-0.8856	10	0.20046	T	0.44	.	13.9422	0.64062	0.4785:0.5215:0.0:0.0	.	51	Q07075	AMPE_HUMAN	L	51	ENSP00000265162:P51L	ENSP00000265162:P51L	P	+	2	0	ENPEP	111617171	.	.	0.001000	0.08648	0.007000	0.05969	.	.	-0.457000	0.07033	0.313000	0.20887	CCG		0.647	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			8	72	0	0	0	1	0	8	72				
GTF3C3	9330	broad.mit.edu	37	2	197657782	197657782	+	Silent	SNP	C	C	T			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr2:197657782C>T	ENST00000263956.3	-	3	398	c.309G>A	c.(307-309)gaG>gaA	p.E103E	GTF3C3_ENST00000470386.1_5'Flank|GTF3C3_ENST00000409364.3_Silent_p.E103E	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	103	Glu-rich.				5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.E103E(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						cctcctcctcctcttcttcct	0.468																																						ENST00000263956.3																			1	Substitution - coding silent(1)	p.E103E(1)	endometrium(1)	breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(307-309)gaG>gaA		general transcription factor IIIC, polypeptide 3, 102kDa							65.0	63.0	64.0					2																	197657782		2203	4300	6503	SO:0001819	synonymous_variant	9330					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr2:197657782C>T	AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.309G>A	2.37:g.197657782C>T						GTF3C3_ENST00000409364.3_Silent_p.E103E	p.E103E	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN			3	398	-			103			Glu-rich.		Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Silent	SNP	ENST00000263956.3	37	c.309G>A	CCDS2316.1																																																																																				0.468	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1			3	69	0	0	0	1	0	3	69				
ELMO2	63916	broad.mit.edu	37	20	45003941	45003941	+	Silent	SNP	G	G	T			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr20:45003941G>T	ENST00000290246.6	-	13	1193	c.999C>A	c.(997-999)gcC>gcA	p.A333A	ELMO2_ENST00000445496.2_Silent_p.A150A|ELMO2_ENST00000396391.1_Silent_p.A333A|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000454865.2_Silent_p.A65A|ELMO2_ENST00000352077.2_Silent_p.A331A|ELMO2_ENST00000372176.1_Silent_p.A245A|ELMO2_ENST00000439931.2_Silent_p.A345A	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	333	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				CACTCCCAGGGGCATTGCTAG	0.498																																						ENST00000372176.1																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16						c.(733-735)gcC>gcA		engulfment and cell motility 2							191.0	119.0	143.0					20																	45003941		2203	4300	6503	SO:0001819	synonymous_variant	63916				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding	g.chr20:45003941G>T	AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"""Engulfment and cell motility proteins"""	17233	protein-coding gene	gene with protein product		606421	"""engulfment and cell motility 2 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.999C>A	20.37:g.45003941G>T						ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000439931.2_Silent_p.A345A|ELMO2_ENST00000454865.2_Silent_p.A65A|ELMO2_ENST00000445496.2_Silent_p.A150A|ELMO2_ENST00000396391.1_Silent_p.A333A|ELMO2_ENST00000290246.6_Silent_p.A333A|ELMO2_ENST00000352077.2_Silent_p.A331A	p.A245A			Q96JJ3	ELMO2_HUMAN			13	1203	-		Myeloproliferative disorder(115;0.0122)	333					E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Silent	SNP	ENST00000290246.6	37	c.735C>A	CCDS13398.1																																																																																				0.498	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080466.1	NM_022086		6	50	1	0	2.0095e-06	1	2.28531e-06	6	50				
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C	rs370761877		TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1760				P -> A (in Ref. 3; CAI56757). {ECO:0000305}.	protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)	p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308																																						ENST00000302558.3																			12	Substitution - Missense(12)	p.P1760A(12)	prostate(6)|urinary_tract(2)|endometrium(2)|kidney(2)	endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.(5278-5280)Cct>Gct		RANBP2-like and GRIP domain containing 8							235.0	168.0	189.0					2																	113127775		686	1558	2244	SO:0001583	missense	727851							g.chr2:113127775G>C	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.5278C>G	2.37:g.113127775G>C	ENSP00000306637:p.Pro1760Ala					RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	p.P1760A	NM_001164463.1	NP_001157935.1					23	5469	-								Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	c.5278C>G	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.892319	0.00522	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.36520	1.25;1.25	0.719	0.719	0.18208	.	.	.	.	.	T	0.11239	0.0274	N	0.02011	-0.69	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.18650	-1.0330	9	0.10902	T	0.67	-6.3628	6.3935	0.21599	0.0:0.6881:0.3119:0.0	.	1760	O14715	RGPD8_HUMAN	A	1760;1620	ENSP00000306637:P1760A;ENSP00000386511:P1620A	ENSP00000306637:P1760A	P	-	1	0	RGPD8	112844246	0.746000	0.28272	0.842000	0.33263	0.015000	0.08874	0.243000	0.18106	-0.105000	0.12132	-1.123000	0.02005	CCT		0.308	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		3	29	0	0	0	1	0	3	29				
FUT8	2530	broad.mit.edu	37	14	66083072	66083072	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr14:66083072G>A	ENST00000360689.5	+	5	2190	c.463G>A	c.(463-465)Gat>Aat	p.D155N	FUT8_ENST00000394585.1_Missense_Mutation_p.D155N|FUT8_ENST00000358307.2_5'UTR|FUT8_ENST00000557164.1_5'UTR|FUT8_ENST00000394586.2_Missense_Mutation_p.D155N	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	155					cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|GDP-L-fucose metabolic process (GO:0046368)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|L-fucose catabolic process (GO:0042355)|N-glycan fucosylation (GO:0036071)|N-glycan processing (GO:0006491)|oligosaccharide biosynthetic process (GO:0009312)|post-translational protein modification (GO:0043687)|protein glycosylation in Golgi (GO:0033578)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|receptor metabolic process (GO:0043112)|respiratory gaseous exchange (GO:0007585)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycoprotein 6-alpha-L-fucosyltransferase activity (GO:0008424)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		ATTTCTTTTGGATTTAGGACA	0.328																																						ENST00000360689.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(463-465)Gat>Aat		fucosyltransferase 8 (alpha (1,6) fucosyltransferase)							75.0	80.0	78.0					14																	66083072		2203	4299	6502	SO:0001583	missense	2530				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding	g.chr14:66083072G>A	AB049740	CCDS9775.1, CCDS9776.1, CCDS9776.2	14q24.3	2013-02-26			ENSG00000033170	ENSG00000033170		"""Fucosyltransferases"""	4019	protein-coding gene	gene with protein product		602589				9368041	Standard	NM_178155		Approved		uc001xio.3	Q9BYC5	OTTHUMG00000142818	ENST00000360689.5:c.463G>A	14.37:g.66083072G>A	ENSP00000353910:p.Asp155Asn					FUT8_ENST00000358307.2_5'UTR|FUT8_ENST00000394586.2_Missense_Mutation_p.D155N|FUT8_ENST00000557164.1_5'UTR|FUT8_ENST00000394585.1_Missense_Mutation_p.D155N	p.D155N	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN		all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)	5	2190	+			155					B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Missense_Mutation	SNP	ENST00000360689.5	37	c.463G>A	CCDS9775.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.130763	0.37630	.	.	ENSG00000033170	ENST00000360689;ENST00000394586;ENST00000394585	T;T;T	0.21543	2.0;2.0;2.0	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.19725	0.0474	L	0.45137	1.4	0.80722	D	1	B	0.11235	0.004	B	0.09377	0.004	T	0.06075	-1.0847	10	0.13470	T	0.59	-18.1185	17.0402	0.86487	0.0:0.0:1.0:0.0	.	155	Q9BYC5	FUT8_HUMAN	N	155	ENSP00000353910:D155N;ENSP00000378087:D155N;ENSP00000378086:D155N	ENSP00000345865:D155N	D	+	1	0	FUT8	65152825	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.918000	0.87506	2.615000	0.88500	0.557000	0.71058	GAT		0.328	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286406.1	NM_004480		9	63	0	0	0	1	0	9	63				
PAX1	5075	broad.mit.edu	37	20	21689273	21689273	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr20:21689273C>T	ENST00000398485.2	+	3	1048	c.994C>T	c.(994-996)Ccc>Tcc	p.P332S	PAX1_ENST00000460221.1_3'UTR|PAX1_ENST00000444366.2_Missense_Mutation_p.P308S	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	332					bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CACGGCCTTCCCCGCCACCCC	0.602																																						ENST00000398485.2																			0				autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						c.(994-996)Ccc>Tcc		paired box 1							40.0	46.0	44.0					20																	21689273		2203	4300	6503	SO:0001583	missense	5075				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr20:21689273C>T		CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"""Paired boxes"""	8615	protein-coding gene	gene with protein product		167411	"""paired box gene 1"""			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.994C>T	20.37:g.21689273C>T	ENSP00000381499:p.Pro332Ser					PAX1_ENST00000460221.1_3'UTR|PAX1_ENST00000444366.2_Missense_Mutation_p.P308S	p.P332S	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN			3	1048	+			332					B4E0D6|Q642X9|Q6NTC0|Q9Y558	Missense_Mutation	SNP	ENST00000398485.2	37	c.994C>T	CCDS13146.2	.	.	.	.	.	.	.	.	.	.	C	11.18	1.564007	0.27915	.	.	ENSG00000125813	ENST00000398485;ENST00000444366	D;D	0.98381	-4.51;-4.9	5.41	3.45	0.39498	.	0.238464	0.43260	N	0.000584	D	0.95066	0.8402	L	0.32530	0.975	0.46823	D	0.99921	B;B;B	0.28350	0.036;0.0;0.208	B;B;B	0.23716	0.03;0.001;0.048	D	0.91755	0.5415	10	0.37606	T	0.19	.	12.0036	0.53246	0.0:0.8555:0.0:0.1445	.	308;238;332	P15863-2;C9J775;P15863	.;.;PAX1_HUMAN	S	332;308	ENSP00000381499:P332S;ENSP00000410355:P308S	ENSP00000381499:P332S	P	+	1	0	PAX1	21637273	0.976000	0.34144	0.945000	0.38365	0.243000	0.25628	1.724000	0.38064	0.634000	0.30469	0.455000	0.32223	CCC		0.602	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078282.3			6	74	0	0	0	1	0	6	74				
PPIL4	85313	broad.mit.edu	37	6	149826699	149826699	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr6:149826699G>A	ENST00000253329.2	-	13	1401	c.1369C>T	c.(1369-1371)Cat>Tat	p.H457Y	PPIL4_ENST00000340881.2_Silent_p.V89V	NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 4	457					protein folding (GO:0006457)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		TTTGATTTATGACTATTACTA	0.383																																						ENST00000253329.2																			0				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13						c.(1369-1371)Cat>Tat		peptidylprolyl isomerase (cyclophilin)-like 4							172.0	161.0	165.0					6																	149826699		2203	4300	6503	SO:0001583	missense	85313				protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding	g.chr6:149826699G>A		CCDS34550.1	6q25.1	2013-02-12			ENSG00000131013	ENSG00000131013		"""RNA binding motif (RRM) containing"""	15702	protein-coding gene	gene with protein product		607609					Standard	NM_139126		Approved		uc003qmo.2	Q8WUA2	OTTHUMG00000015788	ENST00000253329.2:c.1369C>T	6.37:g.149826699G>A	ENSP00000253329:p.His457Tyr					PPIL4_ENST00000340881.2_Silent_p.V89V	p.H457Y	NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)	13	1401	-		Ovarian(120;0.0164)	457					B2RD34|Q7Z3Q5	Missense_Mutation	SNP	ENST00000253329.2	37	c.1369C>T	CCDS34550.1	.	.	.	.	.	.	.	.	.	.	G	5.497	0.276604	0.10403	.	.	ENSG00000131013	ENST00000253329	T	0.12774	2.65	5.32	4.38	0.52667	.	0.000000	0.64402	D	0.000005	T	0.01765	0.0056	N	0.14661	0.345	0.80722	D	1	P	0.35745	0.518	B	0.23574	0.047	T	0.34004	-0.9846	10	0.05959	T	0.93	.	8.3529	0.32314	0.0798:0.0:0.7637:0.1565	.	457	Q8WUA2	PPIL4_HUMAN	Y	457	ENSP00000253329:H457Y	ENSP00000253329:H457Y	H	-	1	0	PPIL4	149868392	1.000000	0.71417	0.984000	0.44739	0.913000	0.54294	2.031000	0.41117	2.878000	0.98634	0.650000	0.86243	CAT		0.383	PPIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042642.1			12	71	0	0	0	1	0	12	71				
SARDH	1757	broad.mit.edu	37	9	136573529	136573529	+	Silent	SNP	C	C	T	rs371233114		TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr9:136573529C>T	ENST00000371872.4	-	11	1607	c.1350G>A	c.(1348-1350)acG>acA	p.T450T	SARDH_ENST00000422262.2_Silent_p.T282T|SARDH_ENST00000439388.1_Silent_p.T450T	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	450					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GGGGGTGGTCCGTGAGCGAGT	0.652																																						ENST00000371872.4																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44						c.(1348-1350)acG>acA		sarcosine dehydrogenase		C	,	1,4405	2.1+/-5.4	0,1,2202	60.0	67.0	65.0		1350,1350	-10.3	0.0	9		65	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SARDH	NM_001134707.1,NM_007101.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	450/919,450/919	136573529	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136573529C>T		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.1350G>A	9.37:g.136573529C>T						SARDH_ENST00000422262.2_Silent_p.T282T|SARDH_ENST00000439388.1_Silent_p.T450T	p.T450T	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	11	1607	-			450					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Silent	SNP	ENST00000371872.4	37	c.1350G>A	CCDS6978.1																																																																																				0.652	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			17	75	0	0	0	1	0	17	75				
SLC2A5	6518	broad.mit.edu	37	1	9107756	9107756	+	Missense_Mutation	SNP	C	C	T	rs138176474	byFrequency	TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr1:9107756C>T	ENST00000377424.4	-	4	510	c.331G>A	c.(331-333)Gtg>Atg	p.V111M	SLC2A5_ENST00000536305.1_Missense_Mutation_p.V52M|SLC2A5_ENST00000535586.1_De_novo_Start_InFrame|SLC2A5_ENST00000377414.3_Missense_Mutation_p.V111M	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	111					carbohydrate metabolic process (GO:0005975)|cellular response to fructose stimulus (GO:0071332)|fructose transport (GO:0015755)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fructose transmembrane transporter activity (GO:0005353)|glucose transmembrane transporter activity (GO:0005355)			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		ATCGCAGGCACGATAGAAAAT	0.393																																						ENST00000377424.4																			0				endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36						c.(331-333)Gtg>Atg		solute carrier family 2 (facilitated glucose/fructose transporter), member 5		C	MET/VAL,MET/VAL	2,4404	4.2+/-10.8	0,2,2201	208.0	193.0	198.0		331,331	1.2	1.0	1	dbSNP_134	198	0,8600		0,0,4300	no	missense,missense	SLC2A5	NM_001135585.1,NM_003039.2	21,21	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging	111/245,111/502	9107756	2,13004	2203	4300	6503	SO:0001583	missense	6518				carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity	g.chr1:9107756C>T	BC001820	CCDS99.1, CCDS44054.1	1p36.2	2013-05-22			ENSG00000142583	ENSG00000142583		"""Solute carriers"""	11010	protein-coding gene	gene with protein product		138230		GLUT5		9691177	Standard	NM_003039		Approved		uc001apo.3	P22732	OTTHUMG00000001771	ENST00000377424.4:c.331G>A	1.37:g.9107756C>T	ENSP00000366641:p.Val111Met					SLC2A5_ENST00000536305.1_Missense_Mutation_p.V52M|SLC2A5_ENST00000377414.3_Missense_Mutation_p.V111M|SLC2A5_ENST00000535586.1_De_novo_Start_InFrame	p.V111M	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	4	510	-	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	111					Q14770|Q5T977|Q8IVB3	Missense_Mutation	SNP	ENST00000377424.4	37	c.331G>A	CCDS99.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.843706	0.71488	4.54E-4	0.0	ENSG00000142583	ENST00000377424;ENST00000456780;ENST00000536305;ENST00000377414	T;T;T	0.78364	-1.17;-1.17;-1.17	5.28	1.19	0.21007	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.262977	0.37530	N	0.002049	D	0.82986	0.5156	M	0.83118	2.625	0.80722	D	1	D;D;D;D	0.64830	0.986;0.992;0.994;0.973	P;P;P;P	0.59643	0.748;0.861;0.845;0.72	T	0.80732	-0.1251	10	0.62326	D	0.03	.	5.2587	0.15561	0.0:0.5355:0.155:0.3096	.	67;52;111;111	B4DG19;B4DU31;P22732-2;P22732	.;.;.;GTR5_HUMAN	M	111;94;52;111	ENSP00000366641:V111M;ENSP00000440688:V52M;ENSP00000366631:V111M	ENSP00000366631:V111M	V	-	1	0	SLC2A5	9030343	0.026000	0.19158	0.954000	0.39281	0.964000	0.63967	0.489000	0.22387	0.580000	0.29522	0.563000	0.77884	GTG		0.393	SLC2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004932.1	NM_003039		13	104	0	0	0	1	0	13	104				
USH2A	7399	broad.mit.edu	37	1	216138762	216138762	+	Silent	SNP	T	T	C			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr1:216138762T>C	ENST00000307340.3	-	37	7403	c.7017A>G	c.(7015-7017)acA>acG	p.T2339T	USH2A_ENST00000366943.2_Silent_p.T2339T	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2339	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGGATCCCTGTGTTTTGACAA	0.413										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(7015-7017)acA>acG		Usher syndrome 2A (autosomal recessive, mild)							143.0	143.0	143.0					1																	216138762		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216138762T>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.7017A>G	1.37:g.216138762T>C		HNSCC(13;0.011)				USH2A_ENST00000307340.3_Silent_p.T2339T	p.T2339T			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	37	7403	-			2339			Fibronectin type-III 10.		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.7017A>G	CCDS31025.1																																																																																				0.413	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		14	102	0	0	0	1	0	14	102				
COLEC11	78989	broad.mit.edu	37	2	3691463	3691463	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr2:3691463G>A	ENST00000349077.4	+	7	674	c.571G>A	c.(571-573)Gca>Aca	p.A191T	COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000382062.2_Missense_Mutation_p.A167T|COLEC11_ENST00000236693.7_Missense_Mutation_p.A188T|COLEC11_ENST00000402922.1_Missense_Mutation_p.A141T|COLEC11_ENST00000403096.3_Missense_Mutation_p.A165T|COLEC11_ENST00000418971.2_Missense_Mutation_p.A205T|COLEC11_ENST00000402794.1_Missense_Mutation_p.A141T|COLEC11_ENST00000404205.1_Missense_Mutation_p.A117T	NM_024027.4	NP_076932.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	191	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				developmental process (GO:0032502)|multicellular organismal development (GO:0007275)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)	mannose binding (GO:0005537)	p.A205T(1)|p.A188T(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		CCTGATGGCCGCATACCTGGC	0.672																																						ENST00000403096.3																			2	Substitution - Missense(2)	p.A205T(1)|p.A188T(1)	kidney(2)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22						c.(493-495)Gca>Aca		collectin sub-family member 11							36.0	40.0	39.0					2																	3691463		2203	4300	6503	SO:0001583	missense	78989					collagen	mannose binding	g.chr2:3691463G>A	BC000078	CCDS1649.1, CCDS1650.1, CCDS58689.1, CCDS58690.1, CCDS58691.1, CCDS58692.1, CCDS58693.1, CCDS58694.1	2p25.3	2014-09-17			ENSG00000118004	ENSG00000118004		"""Collectins"""	17213	protein-coding gene	gene with protein product	"""Collectin K1"""	612502					Standard	NM_024027		Approved	MGC3279, CL-K1	uc031rnn.1	Q9BWP8	OTTHUMG00000090304	ENST00000349077.4:c.571G>A	2.37:g.3691463G>A	ENSP00000339168:p.Ala191Thr					COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000382062.2_Missense_Mutation_p.A167T|COLEC11_ENST00000349077.4_Missense_Mutation_p.A191T|COLEC11_ENST00000236693.7_Missense_Mutation_p.A188T|COLEC11_ENST00000402794.1_Missense_Mutation_p.A141T|COLEC11_ENST00000418971.2_Missense_Mutation_p.A205T|COLEC11_ENST00000404205.1_Missense_Mutation_p.A117T|COLEC11_ENST00000402922.1_Missense_Mutation_p.A141T	p.A165T	NM_001255986.1	NP_001242915.1	Q9BWP8	COL11_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.127)	6	984	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)		191			C-type lectin.		A1IGE4|A1IGE5|A1IGE6|A7VJJ2|A7VJJ3|A7VJJ4|A7VJJ5|B2R9M5|B4E1G0|J3KQY9|Q5CZ85|Q7Z6N1	Missense_Mutation	SNP	ENST00000349077.4	37	c.493G>A	CCDS1649.1	.	.	.	.	.	.	.	.	.	.	G	7.354	0.623376	0.14193	.	.	ENSG00000118004	ENST00000382062;ENST00000236693;ENST00000349077;ENST00000418971;ENST00000403096;ENST00000402794;ENST00000404205;ENST00000402922	T;T;T;T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33	5.2	-0.861	0.10676	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.695666	0.15318	N	0.268725	T	0.07413	0.0187	N	0.11313	0.125	0.09310	N	1	B;B;B;B;B;B;B;B;B	0.22211	0.009;0.002;0.008;0.002;0.002;0.001;0.002;0.006;0.066	B;B;B;B;B;B;B;B;B	0.16289	0.003;0.002;0.002;0.002;0.002;0.002;0.003;0.015;0.007	T	0.26360	-1.0105	10	0.42905	T	0.14	-5.3795	6.5381	0.22365	0.1754:0.0:0.3207:0.5039	.	117;141;141;165;143;167;167;191;188	Q9BWP8-8;Q9BWP8-7;Q9BWP8-6;Q9BWP8-4;Q9BWP8-5;Q9BWP8-3;Q9BWP8-2;Q9BWP8;Q9BWP8-9	.;.;.;.;.;.;.;COL11_HUMAN;.	T	167;188;191;205;165;141;117;141	ENSP00000371494:A167T;ENSP00000236693:A188T;ENSP00000339168:A191T;ENSP00000411770:A205T;ENSP00000385130:A165T;ENSP00000384882:A141T;ENSP00000385827:A117T;ENSP00000385653:A141T	ENSP00000236693:A188T	A	+	1	0	COLEC11	3669338	0.628000	0.27138	0.350000	0.25708	0.027000	0.11550	2.152000	0.42272	-0.402000	0.07633	-0.444000	0.05651	GCA		0.672	COLEC11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206666.1	NM_024027		3	29	0	0	0	1	0	3	29				
TMEM150B	284417	broad.mit.edu	37	19	55824409	55824409	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr19:55824409C>T	ENST00000326652.4	-	8	702	c.520G>A	c.(520-522)Gcc>Acc	p.A174T	TMEM150B_ENST00000438693.1_Missense_Mutation_p.A174T|CTD-2105E13.14_ENST00000596786.1_RNA	NM_001282011.1	NP_001268940.1	A6NC51	T150B_HUMAN	transmembrane protein 150B	174						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3						AGCGAGCAGGCGTGGAGGACG	0.682																																						ENST00000326652.4																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(520-522)Gcc>Acc		transmembrane protein 150B							26.0	34.0	31.0					19																	55824409		2177	4272	6449	SO:0001583	missense	284417					integral to membrane		g.chr19:55824409C>T	BC020862	CCDS42629.1	19q13.42	2009-06-12	2009-06-12	2009-06-12		ENSG00000180061			34415	protein-coding gene	gene with protein product			"""transmembrane protein 224"""	TMEM224			Standard	XM_005258812		Approved		uc010esw.1	A6NC51		ENST00000326652.4:c.520G>A	19.37:g.55824409C>T	ENSP00000320757:p.Ala174Thr					TMEM150B_ENST00000438693.1_Missense_Mutation_p.A174T	p.A174T			A6NC51	T150B_HUMAN			8	702	-			174					B7ZW71	Missense_Mutation	SNP	ENST00000326652.4	37	c.520G>A	CCDS42629.1	.	.	.	.	.	.	.	.	.	.	.	7.962	0.747197	0.15710	.	.	ENSG00000180061	ENST00000326652;ENST00000438693	T;T	0.43294	0.95;0.95	4.37	-8.74	0.00838	.	1.897810	0.02288	N	0.070020	T	0.22781	0.0550	L	0.27053	0.805	0.09310	N	1	B	0.15473	0.013	B	0.10450	0.005	T	0.14699	-1.0463	10	0.23891	T	0.37	.	1.9291	0.03323	0.1587:0.1933:0.1446:0.5033	.	174	A6NC51	T150B_HUMAN	T	174	ENSP00000320757:A174T;ENSP00000412658:A174T	ENSP00000320757:A174T	A	-	1	0	TMEM150B	60516221	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-6.245000	0.00074	-3.860000	0.00098	-0.535000	0.04281	GCC		0.682	TMEM150B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452685.1	NM_001085488		4	17	0	0	0	1	0	4	17				
SDSL	113675	broad.mit.edu	37	12	113875804	113875804	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr12:113875804G>A	ENST00000403593.4	+	8	1172	c.910G>A	c.(910-912)Gtt>Att	p.V304I	SDSL_ENST00000345635.4_Missense_Mutation_p.V304I			Q96GA7	SDSL_HUMAN	serine dehydratase-like	304					cellular amino acid metabolic process (GO:0006520)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	L-serine ammonia-lyase activity (GO:0003941)|L-threonine ammonia-lyase activity (GO:0004794)|pyridoxal phosphate binding (GO:0030170)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15						CCTGACTTCAGTTGTGGTAAT	0.632																																						ENST00000403593.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15						c.(910-912)Gtt>Att		serine dehydratase-like	Pyridoxal Phosphate(DB00114)						143.0	148.0	146.0					12																	113875804		2203	4300	6503	SO:0001583	missense	113675				cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding	g.chr12:113875804G>A	AF134473	CCDS9170.1	12q24.21	2014-06-24				ENSG00000139410			30404	protein-coding gene	gene with protein product						16580895	Standard	NM_138432		Approved	SDS-RS1, cSDH	uc001tvi.3	Q96GA7		ENST00000403593.4:c.910G>A	12.37:g.113875804G>A	ENSP00000385790:p.Val304Ile					SDSL_ENST00000345635.4_Missense_Mutation_p.V304I	p.V304I			Q96GA7	SDSL_HUMAN			8	1172	+			304						Missense_Mutation	SNP	ENST00000403593.4	37	c.910G>A	CCDS9170.1	.	.	.	.	.	.	.	.	.	.	G	8.370	0.834996	0.16820	.	.	ENSG00000139410	ENST00000403593;ENST00000345635	D;D	0.97480	-4.4;-4.4	4.23	2.34	0.29019	Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.282534	0.30028	N	0.010592	D	0.92645	0.7663	L	0.38953	1.18	0.35728	D	0.817679	B	0.14012	0.009	B	0.16722	0.016	D	0.88563	0.3124	10	0.20046	T	0.44	-21.3876	8.3656	0.32385	0.2668:0.0:0.7332:0.0	.	304	Q96GA7	SDSL_HUMAN	I	304	ENSP00000385790:V304I;ENSP00000341117:V304I	ENSP00000341117:V304I	V	+	1	0	SDSL	112360187	0.005000	0.15991	0.159000	0.22649	0.478000	0.33099	0.007000	0.13174	0.906000	0.36621	0.561000	0.74099	GTT		0.632	SDSL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404782.1	NM_138432		25	169	0	0	0	1	0	25	169				
AK3	50808	broad.mit.edu	37	9	4722560	4722560	+	Missense_Mutation	SNP	G	G	A	rs377403539	byFrequency	TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr9:4722560G>A	ENST00000381809.3	-	2	447	c.217C>T	c.(217-219)Cgg>Tgg	p.R73W	AK3_ENST00000447596.4_Intron|AK3_ENST00000359883.2_Missense_Mutation_p.R3W	NM_016282.3	NP_057366.2	P27144	KAD4_HUMAN	adenylate kinase 3	71					ADP biosynthetic process (GO:0006172)|AMP metabolic process (GO:0046033)|ATP metabolic process (GO:0046034)|brain development (GO:0007420)|GTP metabolic process (GO:0046039)|liver development (GO:0001889)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|response to drug (GO:0042493)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside triphosphate adenylate kinase activity (GO:0046899)			large_intestine(2)|lung(1)|ovary(2)	5	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0302)	Adefovir Dipivoxil(DB00718)|Tenofovir(DB00300)	AGGGCCAGCCGAGTCATGACA	0.463													G|||	2	0.000399361	0.0008	0.0	5008	,	,		20027	0.0		0.0	False		,,,				2504	0.001					ENST00000381809.3																			0				large_intestine(2)|lung(1)|ovary(2)	5						c.(217-219)Cgg>Tgg		adenylate kinase 3		G	,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	94.0	86.0	89.0		,7,217,7,7,217	4.6	1.0	9		89	1,8599		0,1,4299	no	intron,missense,missense,missense,missense,missense	AK3	NM_001199852.1,NM_001199853.1,NM_001199854.1,NM_001199855.1,NM_001199856.1,NM_016282.3	,101,101,101,101,101	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	,benign,benign,benign,benign,benign	,3/158,73/228,3/158,3/158,73/228	4722560	3,13003	2203	4300	6503	SO:0001583	missense	50808				blood coagulation	mitochondrial matrix	ATP binding|GTP binding|nucleoside triphosphate adenylate kinase activity	g.chr9:4722560G>A	BC013771	CCDS6455.1, CCDS56561.1, CCDS56562.1	9p24.1	2010-09-29	2004-06-11	2005-04-07	ENSG00000147853	ENSG00000147853			17376	protein-coding gene	gene with protein product		609290	"""adenylate kinase 6"", ""adenylate kinase 3 like 1"""	AK6, AK3L1		8288, 182062	Standard	NM_001199852		Approved	AKL3L1	uc003ziq.2	Q9UIJ7	OTTHUMG00000019472	ENST00000381809.3:c.217C>T	9.37:g.4722560G>A	ENSP00000371230:p.Arg73Trp					AK3_ENST00000447596.4_Intron|AK3_ENST00000359883.2_Missense_Mutation_p.R3W	p.R73W	NM_016282.3	NP_057366.2	Q9UIJ7	KAD3_HUMAN		GBM - Glioblastoma multiforme(50;0.0302)	2	447	-	all_hematologic(13;0.137)	Breast(48;0.238)	73					B2R927|D3DQ62|Q6IBH4|Q6NXQ5|Q8IUU9	Missense_Mutation	SNP	ENST00000381809.3	37	c.217C>T	CCDS6455.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.263195	0.59431	4.54E-4	1.16E-4	ENSG00000147853	ENST00000381809;ENST00000359883;ENST00000474822	T;T	0.77620	0.88;-1.11	5.51	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.79263	0.4416	M	0.87827	2.91	0.48341	D	0.999639	B	0.34214	0.442	B	0.25506	0.061	T	0.81274	-0.1007	10	0.66056	D	0.02	-14.251	15.6307	0.76906	0.0:0.0:0.8614:0.1386	.	73	Q9UIJ7	KAD3_HUMAN	W	73;3;3	ENSP00000371230:R73W;ENSP00000352948:R3W	ENSP00000352948:R3W	R	-	1	2	AK3	4712560	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	4.974000	0.63771	1.310000	0.45006	0.591000	0.81541	CGG		0.463	AK3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051585.1	NM_016282		3	46	0	0	0	1	0	3	46				
LOC101927209	101927209	broad.mit.edu	37	1	142699964	142699965	+	lincRNA	INS	-	-	ATC	rs199580941|rs370401970|rs200844453|rs535377359	byFrequency	TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr1:142699964_142699965insATC	ENST00000610091.1	-	0	3130																											atatatatatatCCAAAATATA	0.262																																						ENST00000369381.2																			0																																																			0							g.chr1:142699964_142699965insATC																													1.37:g.142699964_142699965insATC														0	2077	-									RNA	INS	ENST00000610091.1	37																																																																																						0.262	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			2	4						2	4	---	---	---	---
HDAC2	3066	broad.mit.edu	37	6	114292110	114292112	+	5'UTR	DEL	CTG	CTG	-			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr6:114292110_114292112delCTG	ENST00000519065.1	-	0	337_339				HDAC2_ENST00000368632.2_5'UTR|HDAC2_ENST00000519108.1_5'Flank|RP3-399L15.3_ENST00000449620.2_RNA|RP3-399L15.3_ENST00000521888.1_RNA|RP3-399L15.3_ENST00000436876.2_RNA|RP3-399L15.3_ENST00000520891.1_RNA|RP3-399L15.3_ENST00000520554.1_RNA|HDAC2_ENST00000398283.2_In_Frame_Del_p.S81del|RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000522844.1_RNA			Q92769	HDAC2_HUMAN	histone deacetylase 2						ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|cardiac muscle cell development (GO:0055013)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|dendrite development (GO:0016358)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|hair follicle placode formation (GO:0060789)|hippocampus development (GO:0021766)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|maintenance of chromatin silencing (GO:0006344)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell cycle (GO:0045786)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of neuron projection development (GO:0010977)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of proteolysis (GO:0045862)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein deacetylation (GO:0090311)|regulation of protein kinase B signaling (GO:0051896)|regulation of sarcomere organization (GO:0060297)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|replication fork (GO:0005657)|Sin3 complex (GO:0016580)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|poly(A) RNA binding (GO:0044822)|protein deacetylase activity (GO:0033558)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.S81R(1)		biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Aminophylline(DB01223)|Lovastatin(DB00227)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Valproic Acid(DB00313)|Vorinostat(DB02546)	GCTCCTCCTCctgctgctgctgc	0.685																																						ENST00000398283.2																			1	Substitution - Missense(1)	p.S81R(1)	prostate(1)	biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27						c.(241-246)agg>ag		histone deacetylase 2	Vorinostat(DB02546)																																			SO:0001623	5_prime_UTR_variant	3066				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	g.chr6:114292110_114292112delCTG	U31814	CCDS43493.1, CCDS43493.2	6q21	2008-08-29			ENSG00000196591	ENSG00000196591			4853	protein-coding gene	gene with protein product		605164				9782097	Standard	NM_001527		Approved	RPD3, YAF1	uc003pwd.2	Q92769	OTTHUMG00000015411	ENST00000519065.1:c.-40CAG>-	6.37:g.114292119_114292121delCTG						RP3-399L15.3_ENST00000520554.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA|HDAC2_ENST00000368632.2_5'UTR|RP3-399L15.3_ENST00000449620.2_RNA|RP3-399L15.3_ENST00000436876.2_RNA|HDAC2_ENST00000519065.1_5'UTR	p.SR81del	NM_001527.3	NP_001518.3	Q92769	HDAC2_HUMAN		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	1	247_249	-		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)	0			Histone deacetylase.		B3KRS5|B4DL58|E1P561|Q5SRI8|Q5SZ86|Q8NEH4	In_Frame_Del	DEL	ENST00000519065.1	37	c.243_245delCAG	CCDS43493.2																																																																																				0.685	HDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041909.2			2	4						2	4	---	---	---	---
TPCN1	53373	broad.mit.edu	37	12	113704096	113704098	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr12:113704096_113704098delCTG	ENST00000335509.6	+	4	663_665	c.349_351delCTG	c.(349-351)ctgdel	p.L122del	TPCN1_ENST00000541517.1_In_Frame_Del_p.L194del|TPCN1_ENST00000392569.4_In_Frame_Del_p.L54del|TPCN1_ENST00000550785.1_In_Frame_Del_p.L194del	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	122					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						GGCCACGGCCCTGCTGCTGCTGC	0.64																																						ENST00000550785.1																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						c.(565-567)del		two pore segment channel 1																																				SO:0001651	inframe_deletion	53373					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	g.chr12:113704096_113704098delCTG	AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"""Voltage-gated ion channels / Two-pore channels"""	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.349_351delCTG	12.37:g.113704105_113704107delCTG	ENSP00000335300:p.Leu122del					TPCN1_ENST00000392569.4_In_Frame_Del_p.L54del|TPCN1_ENST00000541517.1_In_Frame_Del_p.L194del|TPCN1_ENST00000335509.6_In_Frame_Del_p.L122del	p.L194del	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN			5	734_736	+			122					A7E258|Q86XS9|Q8NC20	In_Frame_Del	DEL	ENST00000335509.6	37	c.565_567delCTG	CCDS31908.1																																																																																				0.640	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901		8	343						8	343	---	---	---	---
TANGO2	128989	broad.mit.edu	37	22	20049058	20049058	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ZG-A9L6-01A-11D-A41K-08	TCGA-ZG-A9L6-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e0ebbb-acc0-42da-8ba0-893de310f978	4b775aa7-c03d-4cb8-8eb1-7dfe3aa2417a	g.chr22:20049058delT	ENST00000327374.4	+	7	635	c.457delT	c.(457-459)tacfs	p.Y153fs	TANGO2_ENST00000432883.1_Frame_Shift_Del_p.Y91fs|AC006547.13_ENST00000609644.1_RNA|TANGO2_ENST00000401886.1_Frame_Shift_Del_p.Y91fs|AC006547.13_ENST00000601746.1_RNA|AC006547.13_ENST00000600617.1_RNA|AC006547.13_ENST00000600937.1_RNA|AC006547.13_ENST00000598339.1_RNA|AC006547.13_ENST00000609191.1_RNA|AC006547.13_ENST00000596334.1_RNA|AC006547.13_ENST00000608610.1_RNA|AC006547.13_ENST00000415503.1_RNA|TANGO2_ENST00000398042.2_Frame_Shift_Del_p.Y91fs|TANGO2_ENST00000434570.2_Intron|TANGO2_ENST00000456048.1_Frame_Shift_Del_p.Y158fs|TANGO2_ENST00000447208.2_Frame_Shift_Del_p.Y153fs|TANGO2_ENST00000401833.1_Frame_Shift_Del_p.Y194fs|AC006547.13_ENST00000595864.1_RNA|TANGO2_ENST00000420290.2_Frame_Shift_Del_p.Y55fs	NM_001283106.1|NM_001283116.1|NM_001283148.1|NM_001283154.1|NM_152906.4	NP_001270035.1|NP_001270045.1|NP_001270077.1|NP_001270083.1|NP_690870.3	Q6ICL3	TNG2_HUMAN	transport and golgi organization 2 homolog (Drosophila)	153																	CACAGGCACCTACGGGCTGAG	0.632																																						ENST00000327374.4																			0											c.(457-459)acfs		transport and golgi organization 2 homolog (Drosophila)							24.0	24.0	24.0					22																	20049058		2203	4298	6501	SO:0001589	frameshift_variant	128989							g.chr22:20049058delT		CCDS13772.1, CCDS63404.1, CCDS63405.1, CCDS63406.1, CCDS63407.1, CCDS74821.1, CCDS74822.1	22q11.21	2012-12-13	2012-12-13	2012-12-13	ENSG00000183597	ENSG00000183597			25439	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 25"""	C22orf25		12477932	Standard	XM_005261222		Approved	DKFZp761P1121	uc002zrc.1	Q6ICL3	OTTHUMG00000150510	ENST00000327374.4:c.457delT	22.37:g.20049058delT	ENSP00000332721:p.Tyr153fs					TANGO2_ENST00000420290.2_Frame_Shift_Del_p.Y55fs|TANGO2_ENST00000401833.1_Frame_Shift_Del_p.Y194fs|TANGO2_ENST00000401886.1_Frame_Shift_Del_p.Y91fs|TANGO2_ENST00000398042.2_Frame_Shift_Del_p.Y91fs|TANGO2_ENST00000456048.1_Frame_Shift_Del_p.Y158fs|TANGO2_ENST00000447208.2_Frame_Shift_Del_p.Y153fs|TANGO2_ENST00000434570.2_Intron|TANGO2_ENST00000432883.1_Frame_Shift_Del_p.Y91fs	p.Y153fs	NM_152906.4	NP_690870.3					7	635	+								A8MUE9|B7WNV6|B7Z583|B7Z730|D3DX23|Q8IW05|Q8NAL0|Q8TCS0|Q96M16	Frame_Shift_Del	DEL	ENST00000327374.4	37	c.457delT	CCDS13772.1																																																																																				0.632	TANGO2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318689.2	NM_152906		2	4						2	4	---	---	---	---
